Updated on 2024/10/05

Information

 

写真a

 
AKIYAMA MASATO
 
Organization
Faculty of Medical Sciences Lecturer
Title
Lecturer
Tel
0926425648
External link

Degree

  • M.D., Ph.D.

Research History

  • 2015-2018 理化学研究所 統合生命医科学研究センター

    2015-2018 理化学研究所 統合生命医科学研究センター

Research Interests・Research Keywords

  • Research theme:Deep learning for ocular imaging

    Keyword:Deep learning

    Research period: 2018.4

  • Research theme:Genetic analysis for ocular malignant tumor

    Keyword:Cancer genomics

    Research period: 2018.4

  • Research theme:Genomic analysis for complex diseases

    Keyword:Genome-wide association study

    Research period: 2012.4

Awards

  • Alcon Japan Award for Young Investigators

    2024.4   Alcon Japan  

  • Best Scientific Paper Award

    2024.2   the 39th Asia-Pacific Academy of Ophthalmology (APAO) Congress  

  • 第15回 田野Young Investigative Award

    2022.12   日本網膜硝子体学会  

  • 日本人類遺伝学会 奨励賞

    2021.10   日本人類遺伝学会  

  • 令和3年度科学技術分野の文部科学大臣表彰 若手科学者賞

    2021.4   文部科学省  

  • 日本眼科学会 学術奨励賞

    2020.4   日本眼科学会  

  • JRPS ライオンズ賞

    2018.9   網膜色素変性症協会  

  • 第8回 理化学研究所 研究奨励賞

    2017.3   理化学研究所  

  • Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research: Semifinalist

    2016.7   American Society of Human Genetics  

  • 第5回 わかもと先進眼科医療研究会:Gold award

    2015.10   わかもと製薬  

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Papers

  • Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals

    Akiyama M, Sakaue S, Takahashi A, Ishigaki K, Hirata M, Matsuda K, Momozawa Y, Okada Y, Ninomiya T, The Biobank Japan project, Terao C, Murakami Y, Kubo M, Kamatani Y

    Communications Biology   6 ( 1 )   2023.2

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    Language:Others   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s42003-023-04491-0

  • Genome-Wide Association Study of Age-Related Macular Degeneration Reveals 2 New Loci Implying Shared Genetic Components with Central Serous Chorioretinopathy. International journal

    Akiyama M, Miyake M, Momozawa Y, Arakawa S, Maruyama-Inoue M, Endo M, Iwasaki Y, Ishigaki K, Matoba N, Okada Y, Yasuda M, Oshima Y, Yoshida S, Nakao S, Morino K, Mori Y, Kido A, Kato A, Yasukawa T, Obata R, Nagai Y, Takahashi K, Fujisawa K, Miki A, Nakamura M, Honda S, Ushida H, Yasuma T, Nishiguchi KM, Mori R, Tanaka K, Wakatsuki Y, Yamashiro K, Kadonosono K, Terao C, Ishibashi T, Tsujikawa A, Sonoda KH, Kubo M, Kamatani Y

    Ophthalmology   130 ( 4 )   361 - 372   2022.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.ophtha.2022.10.034

  • Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases Invited Reviewed International journal

    Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y.

    Nature Genetics   52 ( 7 )   669 - 679   2020.7

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    DOI: 10.1038/s41588-020-0640-3

  • GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits. Reviewed

    Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Murakami Y, Kubo M, Kamatani Y, Okada Y

    Nature Human Behaviour   4 ( 3 )   308 - 316   2020.3

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    DOI: 10.1038/s41562-019-0805-1

  • HLA-DQ and RBFOX1 as susceptibility genes for an outbreak of hydrolyzed wheat allergy Reviewed International journal

    Noguchi E*, Akiyama M*, Yagami A*, Hirota T, Okada T, Kato Z, Kishikawa R, Fukutomi Y, Hide M, Morita E, Aihara M, Hiragun M, Chinuki Y, Okabe T, Ito A, Adachi A, Fukunaga A, Kubota Y, Aoki T, Aoki Y, Nishioka K, Adachi T, Kanazawa N, Miyazawa H, Sakai H, Miyazawa H, Sakai H, Kozuka T, Kitamura H, Hashizume H, Kanegane C, Matsuda K, Sugiyama K, Tokuda R, Furuta J, Higashimoto I, Kato A, Seishima M, Taijiri A, Tomura A, Taniguchi H, Kojima H, Tanaka H, Sakai BA, Morii W, Nakamura M, Kamatani Y, Takahashi A, Kubo M, Tamari M, Saito H, Matsunaga K

    Journal of Allergy and Clinical Immunology   144 ( 5 )   1354 - 1363   2019.11

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    DOI: 10.1016/j.jaci.2019.06.034

  • Characterizing rare and low-frequency height-associated variants in the Japanese population. Reviewed International journal

    Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, Matsuda K, Ikegawa S, Takahashi A, Kanai M, Suzuki S, Matsui D, Naito M, Yamaji T, Iwasaki M, Sawada N, Tanno K, Sasaki M, Hozawa A, Minegishi N, Wakai K, Tsugane S, Shimizu A, Yamamoto M, Okada Y, Murakami Y, Kubo M, Kamatani Y

    Nature Communications   10 ( 4393 )   2019.10

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    DOI: 10.1038/s41467-019-12276-5

    Other Link: https://www.nature.com/articles/s41467-019-12276-5

  • GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture Invited Reviewed International journal

    Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y.

    Nature Human Behaviour   3 ( 5 )   471 - 477   2019.5

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    DOI: 10.1038/s41562-019-0557-y

  • Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population Invited Reviewed International journal

    Suzuki K, Akiyama M, Ishigaki K, Kanai M, Hosoe J, Shojima N, Hozawa A, Kadota A, Kuriki K, Naito M, Tanno K, Ishigaki Y, Hirata M, Matsuda K, Iwata N, Ikeda M, Sawada N, Yamaji T, Iwasaki M, Ikegawa S, Maeda S, Murakami Y, Wakai K, Tsugane S, Sasaki M, Yamamoto M, Okada Y, Kubo M, Kamatani Y, Horikoshi M, Yamauchi T, Kadowaki T.

    Nature Genetics   51 ( 3 )   379 - 386   2019.3

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    DOI: 10.1038/s41588-018-0332-4

  • Interethnic analyses of blood pressure loci in populations of East Asian and European descent Invited Reviewed International journal

    Takeuchi F*, Akiyama M*, Matoba N*, Katsuya T*, Nakatochi M*, Tabara Y*, Narita A, Saw WY, Moon S, Spracklen CN, Chai JF, Kim YJ, Zhang L, Wang C, Li H, Li H, Wu JY, Dorajoo R, Nierenberg JL, Wang YX, He J, Bennett DA, Takahashi A, Momozawa Y, Hirata M, Matsuda K, Rakugi H, Nakashima E, Isono M, Shirota M, Hozawa A, Ichihara S, Matsubara T, Yamamoto K, Kohara K, Igase M, Han S, Gordon-Larsen P, Huang W, Lee NR, Adair SL, Hwang MY, Lee J, Chee ML, Sabanayagam C, Zhao W, Shi Y, Liu J, Reilly DF, Sun L, Huo S, Edwards T, Long J, Chang LC, Chen CH, Yuan JM, Koh WP, Friedlander Y, Kelly TN, Wei WB, Xu L, Cai H, Xiang YB, Lin K, Clarke R, Walters RG, Millwood IY, Li L, Chambers JC, Kooner JS, Elliott P, van der Harst P, The International Genomics of Blood Pressure (iGEN-BP) Consortium, Chen Z, Sasaki M, Shu XO, Jonas JB, He J, Heng CK, Chen YT, Zheng W, Lin X, Teo YY, Tai ES, Cheng CY, Wong TY, Sim X, Mohlke KL, Yamamoto M, Kim BJ, Miki T, Nabika T, Yokota M, Kamatani Y, Kubo M, Kato N.

    Nature Communications   9   2018.11

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    DOI: 10.1038/s41467-018-07345-0

  • Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases Reviewed International journal

    Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y

    Nature Genetics   50 ( 3 )   390 - 400   2018.3

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    DOI: 10.1038/s41588-018-0047-6

  • Genome-wide association study identifies 112 new loci for body mass index in the Japanese population Reviewed International journal

    Akiyama M, Okada Y, Kanai M, Takahashi A, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Iwasaki M, Yamaji T, Sawada N, Hachiya T, Tanno K, Shimizu A, Hozawa A, Minegishi N, Tsugane S, Yamamoto M, Kubo M, Kamatani Y

    Nature Genetics   49 ( 10 )   1458 - 1467   2017.10

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    Language:Japanese   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/ng.3951

  • Postoperative Proliferation Detection in Eyes Treated for Rhegmatogenous Retinal Detachment by WideField OCT Angiography. International journal

    Yosuke Fukuda, Keijiro Ishikawa, Kohei Kiyohara, Yusuke Maehara, Rui Ji, Kenichiro Mori, Yoshiyuki Kobayashi, Masato Akiyama, Takahito Nakama, Shoji Notomi, Satomi Shiose, Atsunobu Takeda, Koh-Hei Sonoda

    Translational vision science & technology   13 ( 8 )   13 - 13   2024.8

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    PURPOSE: Proliferative retinal changes may occur postsurgery for rhegmatogenous retinal detachment (RRD), possibly preceding recurrent detachment. This study aims to establish the groundwork for an imaging system capable of discerning changes in retinal vessel tortuosity after RRD repair, analyzing widefield optical coherence tomography angiography (WF-OCTA) images. METHODS: Eighty-eight eyes of 86 patients with RRD who underwent surgical procedures and had repeated imaging with clear widefield optical coherence tomography (WF-OCT) and WF-OCTA on different postoperative days were enrolled in this retrospective study. We compared WF-OCTA images over time to identify alterations in retinal vessel tortuosity and observed regional changes in retinal morphology. RESULTS: After image processing, changes in retinal vessel tortuosity were detected in 66 quadrants. These changes, attributed to retinal traction from proliferative membranes, were observed in 56 quadrants, among which retinal thickness remained unchanged in seven sectors (12.5%) according to the WF-OCT map. In nine quadrants, changes in retinal vessel tortuosity were attributed to changes in subretinal fluid, aligning with observable variations in retinal thickness. CONCLUSIONS: Observation of vessel tortuosity changes using WF-OCTA can help detect early postoperative proliferative changes in eyes with RRD. TRANSLATIONAL RELEVANCE: Because WF-OCTA can detect minute vessel tortuosity changes, it can offer a noninvasive alternative for the detection of early postoperative proliferative changes.

    DOI: 10.1167/tvst.13.8.13

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  • Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals. International journal

    Masato Akiyama, Gen Tamiya, Kohta Fujiwara, Yukihiro Shiga, Yu Yokoyama, Kazuki Hashimoto, Masataka Sato, Kota Sato, Akira Narita, Sawako Hashimoto, Emi Ueda, Yoshihiko Furuta, Jun Hata, Masahiro Miyake, Hanako O Ikeda, Kenji Suda, Shogo Numa, Yuki Mori, Kazuya Morino, Yusuke Murakami, Sakurako Shimokawa, Shun Nakamura, Nobuyo Yawata, Kimihiko Fujisawa, Satoshi Yamana, Kenichiro Mori, Yasuhiro Ikeda, Kazunori Miyata, Keisuke Mori, Ken Ogino, Yoshito Koyanagi, Yoichiro Kamatani, Toshiharu Ninomiya, Koh-Hei Sonoda, Toru Nakazawa

    Ophthalmology   2024.7   ISSN:01616420

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    PURPOSE: To assess the impact of genetic risk estimation for primary open-angle glaucoma (POAG) in Japanese individuals. DESIGN: Cross-sectional analysis. PARTICIPANTS: Genetic risk scores (GRSs) were constructed based on a genome-wide association study (GWAS) of POAG in Japanese people. A total of 3625 Japanese individuals, including 1191 patients and 2434 controls (Japanese Tohoku), were used for the model selection. We also evaluated the discriminative accuracy of constructed GRSs in a dataset comprising 1034 patients and 1147 controls (the Japan Glaucoma Society Omics Group [JGS-OG] and the Genomic Research Committee of the Japanese Ophthalmological Society [GRC-JOS]) and 1900 participants from a population-based study (Hisayama Study). METHODS: We evaluated 2 types of GRSs: polygenic risk scores using the pruning and thresholding procedure and a GRS using variants associated with POAG in the GWAS of the International Glaucoma Genetics Consortium (IGGC). We selected the model with the highest areas under the receiver operating characteristic curve (AUC). In the population-based study, we evaluated the correlations between GRS and ocular measurements. MAIN OUTCOME MEASURE: Proportion of patients with POAG after stratification according to the GRS. RESULTS: We found that a GRS using 98 variants, which showed genome-wide significance in the IGGC, showed the best discriminative accuracy (AUC, 0.65). In the Japanese Tohoku, the proportion of patients with POAG in the top 10% individuals was significantly higher than that in the lowest 10% (odds ratio [OR], 6.15; 95% confidence interval [CI], 4.35-8.71). In the JGS-OG and GRC-JOS, we confirmed similar impact of POAG GRS (AUC, 0.64; OR [top vs. bottom decile], 5.81; 95% CI, 3.79-9.01). In the population-based study, POAG prevalence was significantly higher in the top 20% individuals of the GRS compared with the bottom 20% (9.2% vs. 5.0%). However, the discriminative accuracy was low (AUC, 0.56). The POAG GRS was correlated positively with intraocular pressure (r = 0.08: P = 4.0 × 10-4) and vertical cup-to-disc ratio (r = 0.11; P = 4.0 × 10-6). CONCLUSIONS: The GRS showed moderate discriminative accuracy for POAG in the Japanese population. However, risk stratification in the general population showed relatively weak discriminative performance. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

    DOI: 10.1016/j.ophtha.2024.05.026

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  • Clinical features and prognosis of conjunctival melanoma in Japanese patients

    Tanabe, M; Funatsu, N; Akiyama, M; Takaki, KI; Fujii, Y; Seki, E; Yamana, K; Yoshikawa, H; Sonoda, KH

    JAPANESE JOURNAL OF OPHTHALMOLOGY   68 ( 5 )   463 - 471   2024.7   ISSN:0021-5155 eISSN:1613-2246

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    Purpose: To evaluate the clinical features and prognosis of conjunctival melanoma in Japanese patients. Study design: Retrospective observational case series. Methods: Twenty patients (8 men and 12 women) diagnosed with conjunctival melanoma at a singlehospital between 2003 and 2017 were analyzed. Data on clinical presentation, sex, age, the affected eye, tumor location, tumor origin, tumor stage according to the American Joint Committee on Cancer staging system (eighth edition), treatment, outcomes, local recurrence, metastasis, and survival were extracted from the patients’ medical records and reviewed. Results: The mean age at diagnosis was 64.2 ± 14.8 years. Tumor locations at the first examination included the bulbar conjunctiva (n = 19), plica (n = 13), and fornix (n = 12). The tumor stage was T1 in 5 cases (25%), T2 in 12 cases (60%), T3 in 3 cases (15%), and T4 in none. The mean follow-up duration was 91.7 ± 46.0 months. The local recurrence rates at 1, 5, and 10 years were 5.0%, 18.8%, and 31.5%, respectively, whilst the metastasis rates were 5.0%, 25.6%, and 32.4%, respectively. Four of the 6 patients who experienced metastasis died; duration from metastasis to death was 17.5 months (range, 7–25). The 5-year survival rate for conjunctival melanoma was 78.8%. Tumor thickness was significantly associated with survival duration on univariate Cox regression analyses. Conclusion: The mortality rate for conjunctival melanoma in the Japanese population was lower and higher than that reported in the Chinese and United States populations, respectively. Tumor thickness was a prognostic factor for survival in patients with conjunctival melanoma.

    DOI: 10.1007/s10384-024-01085-z

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  • Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.

    Kaoru Fujinami, Koji M Nishiguchi, Akio Oishi, Masato Akiyama, Yasuhiro Ikeda

    Japanese journal of ophthalmology   68 ( 4 )   389 - 399   2024.7   ISSN:0021-5155 eISSN:1613-2246

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    Accurate interpretation of sequence variants in inherited retinal dystrophy (IRD) is vital given the significant genetic heterogeneity observed in this disorder. To achieve consistent and accurate diagnoses, establishment of standardized guidelines for variant interpretation is essential. The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant interpretation serve as the global "cross-disease" standard for classifying variants in Mendelian hereditary disorders. These guidelines propose a systematic approach for categorizing variants into 5 classes based on various types of evidence, such as population data, computational data, functional data, and segregation data. However, for clinical genetic diagnosis and to ensure standardized diagnosis and treatment criteria, additional specifications based on features associated with each disorder are necessary. In this context, we present a comprehensive framework outlining the newly specified ACMG/AMP rules tailored explicitly to IRD in the Japanese population on behalf of the Research Group on Rare and Intractable Diseases (Ministry of Health, Labour and Welfare of Japan). These guidelines consider disease frequencies, allele frequencies, and both the phenotypic and the genotypic characteristics unique to IRD in the Japanese population. Adjustments and modifications have been incorporated to reflect the specific requirements of the population. By incorporating these IRD-specific factors and refining the existing ACMG/AMP guidelines, we aim to enhance the accuracy and consistency of variant interpretation in IRD cases, particularly in the Japanese population. These guidelines serve as a valuable resource for ophthalmologists and clinical geneticists involved in the diagnosis and treatment of IRD, providing them with a standardized framework to assess and classify genetic variants.

    DOI: 10.1007/s10384-024-01063-5

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  • Factors at the initial visit associated with poor visual outcomes in patients with acute retinal necrosis. International journal

    Chihiro Fukui, Atsunobu Takeda, Eiichi Hasegawa, Kenichiro Asahara, Mariko Shirane, Hiroki Tsutsui, Keiko Yoshitomi, Takako Ito, Masato Akiyama, Shoji Notomi, Keijiro Ishikawa, Yusuke Murakami, Toshio Hisatomi, Nobuyo Yawata, Koh-Hei Sonoda

    Eye (London, England)   2024.6   ISSN:0950-222X eISSN:1476-5454

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    BACKGROUND/OBJECTIVE: Acute retinal necrosis (ARN) is a vision-threatening disease caused by herpesvirus infection. This study aimed to investigate the visual prognostic factors that could be determined at the initial visit. SUBJECTS AND METHODS: This retrospective study included 34 patients with ARN. Logistic regression analysis was employed to evaluate the associations between poor final visual outcomes and various factors, including poor initial visual acuity, presence of retinal detachment at the initial visit, posterior extension of necrotizing retinitis, and circumferential extension of necrotizing retinitis. Posterior extension was evaluated with three zonings, from the periphery (zone 3), mid-periphery (zone 2), and macula (zone 1). Circumferential extension was evaluated according to the degree of necrotizing retinitis lesions using ultra-wide fundus imaging. RESULTS: The mean logarithm of the minimum angle of resolution was 0.63 ± 0.68 at the initial visit and 0.83 ± 0.65 at 12 months after the initial visit. Seven patients had a retinal detachment. The distribution of posterior extension at the initial visit was 5 in zone 1, 20 in zone 2, and 9 in zone 3. The average of necrotizing retinitis lesion angle was 249 ± 115°. The logistic regression analysis revealed that participants with wide angles of necrotizing retinitis were associated with final poor vision, with an odds ratio of 1.28 per 30° increase (95%CI: 1.00-1.65, p = 0.03). CONCLUSIONS: Assessment of the widespread circumferential extension of white necrotizing retinal lesions at the initial visit is a crucial risk factor for the visual prognosis in ARN.

    DOI: 10.1038/s41433-024-03207-w

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  • Relationship of Major Depressive Disorder and Schizophrenia Polygenic Risk Scores to Suicide: A Comparison Between European and Asian Ancestry Populations

    Otsuka, I; Galfalvy, H; Guo, J; Akiyama, M; Okazaki, S; Terao, C; Rujescu, D; Turecki, G; Hishimoto, A; Mann, JJ

    ARCHIVES OF SUICIDE RESEARCH   2024.4   ISSN:1381-1118 eISSN:1543-6136

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    Publisher:Archives of Suicide Research  

    Psychiatric diagnosis rates in suicide decedents appear higher in European ancestry populations compared with East Asians. Shared genetic components exist between major depressive disorder (MDD)/schizophrenia (SCZ) and suicide, but no study has compared these shared polygenic architectures between Europeans and East Asians. We compared polygenic risk scores (PRSs) for MDD/SCZ determined from large data sets specific to each ancestry in European and East Asian suicide decedent samples. MDD/SCZ PRSs appeared more prominent in European suicides compared with Japanese suicides. A greater coexistence of psychiatric disorders in European suicide decedents than in East Asian suicide decedents may be partly explained by genetics. Our results are limited by the smaller sample size of our suicide decedents and sample size disparities between the European discovery data set and the East Asian data set for MDD/SCZ, resulting in less statistical power to detect robust difference between the two ancestries.

    DOI: 10.1080/13811118.2024.2332258

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  • A case of primary orbital liposarcoma with dedifferentiated transformation from a well-differentiated form

    Tanabe M., Yoshikawa H., Fukushima M., Mizoguchi M., Akiyama M., Sangatsuda Y., Narutomi F., Sonoda K.H.

    American Journal of Ophthalmology Case Reports   33   101983   2024.3   ISSN:24519936

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    Purpose: Primary orbital liposarcomas are rare. To the best of our knowledge, only four cases of primary dedifferentiated liposarcomas of the orbit have been reported. Furthermore, there have been no reports of primary orbital liposarcomas transitioning from a highly differentiated to a dedifferentiated form. Here, we report a case of primary orbital liposarcoma that was well-differentiated at the time of initial resection at our hospital but had dedifferentiated on recurrence 10 years after the initial resection. Observations: The patient was diagnosed with an inflammatory mass after an initial tumor resection by a previous physician at age 52. Thereafter, there were four recurrences (first to fourth recurrences), and the patient underwent five surgeries and radiotherapy. For the fifth recurrence, he first visited our hospital at age 64 and was diagnosed with a well-differentiated liposarcoma after undergoing tumor resection. When the tumor recurred 9 years later (the sixth recurrence), it was well-differentiated. When the tumor recurred (the seventh recurrence) six months after surgery at the age of 73 years, the patient underwent orbital exenteration because of rapid tumor growth, and pathological examination showed that the tissue had changed to a dedifferentiated liposarcoma. Conclusions and Importance: Primary well-differentiated orbital liposarcoma may transform to a dedifferentiated form over time. The risk of dedifferentiation at recurrence should be considered in developing a treatment plan, even if the initial pathology is a well-differentiated liposarcoma.

    DOI: 10.1016/j.ajoc.2023.101983

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  • Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.

    Saki Tsutsui, Yusuke Murakami, Kohta Fujiwara, Yoshito Koyanagi, Masato Akiyama, Atsunobu Takeda, Yasuhiro Ikeda, Koh-Hei Sonoda

    Japanese journal of ophthalmology   68 ( 1 )   1 - 11   2024.1

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    DOI: 10.1007/s10384-023-01036-0

  • Deep Learning Model for Extensive Smartphone-based Diagnosis and Triage of Cataracts and Multiple Corneal Diseases. Reviewed International journal

    Ueno Y, Oda M, Yamaguchi T, Fukuoka H, Nejima R, Kitaguchi Y, Miyake M, Akiyama M, Miyata K, Kashiwagi K, Maeda N, Shimazaki J, Noma H, Mori K, Oshika T

    Br J Ophthalmol   2024.1

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  • X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

    Nature Communications   15 ( 1 )   2024.1

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    DOI: 10.1038/s41467-024-44709-1

  • A case of primary orbital liposarcoma with dedifferentiated transformation from a well-differentiated form. Reviewed International journal

    Tanabe M, Yoshikawa H, Fukushima M, Mizoguchi M, Akiyama M, Sangatsuda Y, Narutomi F, Sonoda KH.

    Am J Ophthal Case Reports.   2023.12

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  • Incidence and clinical features of immunologic rejection after deep anterior lamellar keratoplasty. Reviewed International journal

    Kasamatsu H, Yamaguchi T, Yagi-Yaguchi Y, Nishisako S, Tomida D, Akiyama M, Murata T, Shimazaki J.

    Cornea   2023.11

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  • Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels Reviewed International journal

    Shi M, Tanikawa C, Munter M, Akiyama M, Koyama S, Tomiduka K, Matsusda K, Lathrop M, Terao C, Koido M, Kamatani Y

    Brief Bioinform.   2023.11

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  • Differences in Central and Peripheral Choroidal Thickness among the Subtypes of Age-Related Macular Degeneration in an Asian Population. International journal

    Yosuke Fukuda, Shoji Notomi, Satomi Shiose, Kumiko Kano, Sawako Hashimoto, Kohta Fujiwara, Masato Akiyama, Keijiro Ishikawa, Toshio Hisatomi, Koh-Hei Sonoda

    Journal of clinical medicine   12 ( 16 )   2023.8

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    DOI: 10.3390/jcm12165364

  • Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci. International journal

    Nature genetics   2023.6

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    DOI: 10.1038/s41588-023-01428-5

  • Observation of choroidal vessels using ultra-wide-field optical coherence tomography in non-drusen type age-related macular degeneration

    Fukuda, Y; Notomi, S; Shiose, S; Kano, K; Hashimoto, S; Akiyama, M; Ishikawa, K; Sonoda, KH

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   64 ( 8 )   2023.6   ISSN:0146-0404 eISSN:1552-5783

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  • Author Correction: The power of genetic diversity in genome-wide association studies of lipids

    Nature   618 ( 7965 )   E19 - E20   2023.5

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    DOI: 10.1038/s41586-023-06194-2

  • The High-dimensional Space of Human Diseases Built from Diagnosis Records and Mapped to Genetic Loci. Reviewed International journal

    Jia G, Li Y, Zhong X, Pividori M, Alomairy R, Aniello E, Ltaief H, Terao C, Akiyama M, Matsuda K, Keyes DE, Im HK, Gojobori T, Kamatani Y, Kubo M, Cox NJ, Evans J, Gao X, Rzhetsky A.

    Nat Comput Sci   2023.5

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  • Mapping the genetic architecture of suicide attempt and suicide death using polygenic risk scores for clinically-related psychiatric disorders and traits

    Otsuka, I; Galfalvy, H; Guo, J; Akiyama, M; Rujescu, D; Turecki, G; Hishimoto, A; Mann, JJ

    PSYCHOLOGICAL MEDICINE   53 ( 6 )   2689 - 2697   2023.4   ISSN:0033-2917 eISSN:1469-8978

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    Background Suicidal behavior is moderately heritable and a consequence of a combination of the diathesis traits for suicidal behavior and suicide-related major psychiatric disorders. Here, we sought to examine shared polygenic effects between various psychiatric disorders/traits and suicidal behavior and to compare the shared polygenic effects of various psychiatric disorders/traits on non-fatal suicide attempt and suicide death. Methods We used our genotyped European ancestry sample of 260 non-fatal suicide attempters, 317 suicide decedents and 874 non-psychiatric controls to test whether polygenic risk scores (PRSs) obtained from large GWASs for 22 suicide-related psychiatric disorders/traits were associated with suicidal behavior. Results were compared between non-fatal suicide attempt and suicide death in a sensitivity analysis. Results PRSs for major depressive disorder, bipolar disorder, schizophrenia, ADHD, alcohol dependence, sensitivity to environmental stress and adversity, educational attainment, cognitive performance, and IQ were associated with suicidal behavior (Bonferroni-corrected p < 2.5 × 10-4). The polygenic effects of all 22 psychiatric disorders/traits had the same direction (p for binomial tests = 4.8 × 10-7) and were correlated (Spearman's ρ = 0.85) between non-fatal suicide attempters and suicide decedents. Conclusions We found that polygenic effects for major psychiatric disorders and diathesis-related traits including stress responsiveness and intellect/cognitive function contributed to suicidal behavior. While we found comparable polygenic architecture between non-fatal suicide attempters and suicide decedents based on correlations with PRSs of suicide-related psychiatric disorders/traits, our analyses are limited by small sample size resulting in low statistical power to detect difference between non-fatal suicide attempt and suicide death.

    DOI: 10.1017/S0033291721004700

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  • CKD, Brain Atrophy, and White Matter Lesion Volume: The Japan Prospective Studies Collaboration for Aging and Dementia. International journal

    Kenji Maki, Tomoyuki Ohara, Jun Hata, Mao Shibata, Naoki Hirabayashi, Takanori Honda, Satoko Sakata, Yoshihiko Furuta, Masato Akiyama, Keisuke Yamasaki, Yasuko Tatewaki, Yasuyuki Taki, Takanari Kitazono, Tatsuya Mikami, Tetsuya Maeda, Kenjiro Ono, Masaru Mimura, Kenji Nakashima, Jun-Ichi Iga, Minoru Takebayashi, Toshiharu Ninomiya

    Kidney medicine   5 ( 3 )   100593 - 100593   2023.3

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    DOI: 10.1016/j.xkme.2022.100593

  • Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction

    Kazuo Miyazawa, Kaoru Ito, Masamichi Ito, Zhaonan Zou, Masayuki Kubota, Seitaro Nomura, Hiroshi Matsunaga, Satoshi Koyama, Hirotaka Ieki, Masato Akiyama, Yoshinao Koike, Ryo Kurosawa, Hiroki Yoshida, Kouichi Ozaki, Yoshihiro Onouchi, Koichi Matsuda, Yoshinori Murakami, Yoichiro Kamatani, Atsushi Takahashi, Koichi Matsuda, Yoshinori Murakami, Hiroyuki Aburatani, Michiaki Kubo, Yukihide Momozawa, Chikashi Terao, Shinya Oki, Hiroshi Akazawa, Yoichiro Kamatani, Issei Komuro

    Nature Genetics   2023.1

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    DOI: 10.1038/s41588-022-01284-9

  • Genetic diversity fuels gene discovery for tobacco and alcohol use

    Saunders G.R.B., Wang X., Chen F., Jang S.K., Liu M., Wang C., Gao S., Jiang Y., Khunsriraksakul C., Otto J.M., Addison C., Akiyama M., Albert C.M., Aliev F., Alonso A., Arnett D.K., Ashley-Koch A.E., Ashrani A.A., Barnes K.C., Barr R.G., Bartz T.M., Becker D.M., Bielak L.F., Benjamin E.J., Bis J.C., Bjornsdottir G., Blangero J., Bleecker E.R., Boardman J.D., Boerwinkle E., Boomsma D.I., Boorgula M.P., Bowden D.W., Brody J.A., Cade B.E., Chasman D.I., Chavan S., Chen Y.D.I., Chen Z., Cheng I., Cho M.H., Choquet H., Cole J.W., Cornelis M.C., Cucca F., Curran J.E., de Andrade M., Dick D.M., Docherty A.R., Duggirala R., Eaton C.B., Ehringer M.A., Esko T., Faul J.D., Silva L.F., Fiorillo E., Fornage M., Freedman B.I., Gabrielsen M.E., Garrett M.E., Gharib S.A., Gieger C., Gillespie N., Glahn D.C., Gordon S.D., Gu C.C., Gu D., Gudbjartsson D.F., Guo X., Haessler J., Hall M.E., Haller T., Harris K.M., He J., Herd P., Hewitt J.K., Hickie I., Hidalgo B., Hokanson J.E., Hopfer C., Hottenga J.J., Hou L., Huang H., Hung Y.J., Hunter D.J., Hveem K., Hwang S.J., Hwu C.M., Iacono W., Irvin M.R., Jee Y.H., Johnson E.O., Joo Y.Y., Jorgenson E., Justice A.E., Kamatani Y., Kaplan R.C., Kaprio J., Kardia S.L.R., Keller M.C.

    Nature   612 ( 7941 )   720 - 724   2022.12   ISSN:00280836

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    Language:English   Publisher:Nature  

    Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1–4. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries5. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in sample size and genetic diversity improved locus identification and fine-mapping resolution, and that a large majority of the 3,823 associated variants (from 2,143 loci) showed consistent effect sizes across ancestry dimensions. However, polygenic risk scores developed in one ancestry performed poorly in others, highlighting the continued need to increase sample sizes of diverse ancestries to realize any potential benefit of polygenic prediction.

    DOI: 10.1038/s41586-022-05477-4

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  • Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

    Communications Biology   5 ( 1 )   2022.12

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    DOI: 10.1038/s42003-022-03448-z

  • Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma. International journal

    Fumihiko Mabuchi, Nakako Mabuchi, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Zentaro Yamagata, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie

    Scientific reports   12 ( 1 )   20744 - 20744   2022.12

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    DOI: 10.1038/s41598-022-24915-x

  • Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. International journal

    Genome biology   23 ( 1 )   268 - 268   2022.12

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    DOI: 10.1186/s13059-022-02837-1

  • Discerning asthma endotypes through comorbidity mapping

    Jia, GJ; Zhong, X; Im, HK; Schoettler, N; Pividori, M; Hogarth, DK; Sperling, AI; White, SR; Naureckas, ET; Lyttle, CS; Terao, C; Kamatani, Y; Akiyama, M; Matsuda, K; Kubo, M; Cox, NJ; Ober, C; Rzhetsky, A; Solway, J

    NATURE COMMUNICATIONS   13 ( 1 )   6712   2022.11   eISSN:2041-1723

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    Asthma is a heterogeneous, complex syndrome, and identifying asthma endotypes has been challenging. We hypothesize that distinct endotypes of asthma arise in disparate genetic variation and life-time environmental exposure backgrounds, and that disease comorbidity patterns serve as a surrogate for such genetic and exposure variations. Here, we computationally discover 22 distinct comorbid disease patterns among individuals with asthma (asthma comorbidity subgroups) using diagnosis records for >151 M US residents, and re-identify 11 of the 22 subgroups in the much smaller UK Biobank. GWASs to discern asthma risk loci for individuals within each subgroup and in all subgroups combined reveal 109 independent risk loci, of which 52 are replicated in multi-ancestry meta-analysis across different ethnicity subsamples in UK Biobank, US BioVU, and BioBank Japan. Fourteen loci confer asthma risk in multiple subgroups and in all subgroups combined. Importantly, another six loci confer asthma risk in only one subgroup. The strength of association between asthma and each of 44 health-related phenotypes also varies dramatically across subgroups. This work reveals subpopulations of asthma patients distinguished by comorbidity patterns, asthma risk loci, gene expression, and health-related phenotypes, and so reveals different asthma endotypes.

    DOI: 10.1038/s41467-022-33628-8

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  • A saturated map of common genetic variants associated with human height

    Nature   610 ( 7933 )   704 - 712   2022.10

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    DOI: 10.1038/s41586-022-05275-y

  • Japan Ocular Imaging Registry: a national ophthalmology real-world database.

    Masahiro Miyake, Masato Akiyama, Kenji Kashiwagi, Taiji Sakamoto, Tetsuro Oshika

    Japanese journal of ophthalmology   66 ( 6 )   499 - 503   2022.9

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    DOI: 10.1007/s10384-022-00941-0

  • A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. International journal

    American journal of human genetics   109 ( 8 )   1366 - 1387   2022.8

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    DOI: 10.1016/j.ajhg.2022.06.012

  • Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. International journal

    Yusuke Sano, Yoshito Koyanagi, Jing Hao Wong, Yusuke Murakami, Kohta Fujiwara, Mikiko Endo, Tomomi Aoi, Kazuki Hashimoto, Toru Nakazawa, Yuko Wada, Shinji Ueno, Dan Gao, Akira Murakami, Yoshihiro Hotta, Yasuhiro Ikeda, Koji M Nishiguchi, Yukihide Momozawa, Koh-Hei Sonoda, Masato Akiyama, Akihiro Fujimoto

    Journal of medical genetics   59 ( 11 )   1133 - 1138   2022.6

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    DOI: 10.1136/jmedgenet-2022-108428

  • One-year efficacy of "rescue photodynamic therapy" for patients with typical age-related macular degeneration, polypoidal choroidal vasculopathy, and pachychoroid neovasculopathy refractory to anti-vascular endothelial growth factor therapy. International journal

    Iori Wada, Satomi Shiose, Keijiro Ishikawa, Kumiko Kano, Shoji Notomi, Kenichiro Mori, Masato Akiyama, Shintaro Nakao, Koh-Hei Sonoda

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie   260 ( 6 )   2029 - 2036   2022.6

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    DOI: 10.1007/s00417-022-05553-5

  • Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. International journal

    Nature genetics   54 ( 5 )   560 - 572   2022.5

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    DOI: 10.1038/s41588-022-01058-3

  • Circulating inflammatory monocytes oppose microglia and contribute to cone cell death in retinitis pigmentosa. International journal

    Jun Funatsu, Yusuke Murakami, Shotaro Shimokawa, Shunji Nakatake, Kohta Fujiwara, Ayako Okita, Masatoshi Fukushima, Kensuke Shibata, Noriko Yoshida, Yoshito Koyanagi, Masato Akiyama, Shoji Notomi, Shintaro Nakao, Toshio Hisatomi, Atsunobu Takeda, Eleftherios I Paschalis, Demetrios G Vavvas, Yasuhiro Ikeda, Koh-Hei Sonoda

    PNAS nexus   1 ( 1 )   2022.3

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    DOI: 10.1093/pnasnexus/pgac003

  • TNFRSF10A downregulation induces retinal pigment epithelium degeneration during the pathogenesis of age-related macular degeneration and central serous chorioretinopathy. International journal

    Kenichiro Mori, Keijiro Ishikawa, Yosuke Fukuda, Rui Ji, Iori Wada, Yuki Kubo, Masato Akiyama, Shoji Notomi, Yusuke Murakami, Shintaro Nakao, Satoshi Arakawa, Satomi Shiose, Toshio Hisatomi, Shigeo Yoshida, Ram Kannan, Koh-Hei Sonoda

    Human molecular genetics   31 ( 13 )   2194 - 2206   2022.2

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    DOI: 10.1093/hmg/ddac020

  • Regulatory-approved deep learning/machine learning-based medical devices in Japan as of 2020: A systematic review

    Nao Aisu, Masahiro Miyake, Kohei Takeshita, Masato Akiyama, Ryo Kawasaki, Kenji Kashiwagi, Taiji Sakamoto, Tetsuro Oshika, Akitaka Tsujikawa

    PLOS Digital Health   1 ( 1 )   e0000001 - e0000001   2022.1

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    DOI: 10.1371/journal.pdig.0000001

  • Mendelian randomization of genetically independent aging phenotypes identifies LPA and VCAM1 as biological targets for human aging

    Paul R. H. J. Timmers, Evgeny S. Tiys, Saori Sakaue, Masato Akiyama, Tuomo T. J. Kiiskinen, Wei Zhou, Shih-Jen Hwang, Chen Yao, Yoichiro Kamatani, Wei Zhou, Joris Deelen, Daniel Levy, Andrea Ganna, Yoichiro Kamatani, Yukinori Okada, Peter K. Joshi, James F. Wilson, Yakov A. Tsepilov

    Nature Aging   2022.1

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    DOI: 10.1038/s43587-021-00159-8

  • Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease. International journal

    International journal of epidemiology   50 ( 6 )   1995 - 2010   2022.1

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    DOI: 10.1093/ije/dyab203

  • The power of genetic diversity in genome-wide association studies of lipids

    Nature   600 ( 7890 )   675 - 679   2021.12

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    DOI: 10.1038/s41586-021-04064-3

  • A cross-population atlas of genetic associations for 220 human phenotypes. International journal

    Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha Karjalainen, Mitja Kurki, Seizo Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama, Kazuyoshi Ishigaki, Akari Suzuki, Ken Suzuki, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Shinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune, Kaoru Ito, Chikashi Terao, Toshimasa Yamauchi, Issei Komuro, Takashi Kadowaki, Gen Tamiya, Masayuki Yamamoto, Yusuke Nakamura, Michiaki Kubo, Yoshinori Murakami, Kazuhiko Yamamoto, Yoichiro Kamatani, Aarno Palotie, Manuel A Rivas, Mark J Daly, Koichi Matsuda, Yukinori Okada

    Nature genetics   53 ( 10 )   1415 - 1424   2021.10

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    DOI: 10.1038/s41588-021-00931-x

  • Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease. International journal

    International journal of epidemiology   2021.10

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    DOI: 10.1093/ije/dyab203

  • Risk factors for myopia at 1-year corrected age following laser photocoagulation for retinopathy of prematurity. International journal

    Yujiro Mori, Mitsuru Arima, Emi Ueda, Kohta Fujiwara, Eiko Seki, Takahito Nakama, Shoko Tsukamoto, Masato Akiyama, Koh-Hei Sonoda

    Eye (London, England)   35 ( 10 )   2820 - 2825   2021.10

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    DOI: 10.1038/s41433-020-01321-z

  • Recurrence Rate of Cystoid Macular Edema with Topical Dorzolamide Treatment and Its Risk Factors in Retinitis Pigmentosa. International journal

    Shotaro Shimokawa, Yusuke Murakami, Kohta Fujiwara, Jun Funatsu, Shunji Nakatake, Yoshito Koyanagi, Masato Akiyama, Noriko Yoshida, Atsunobu Takeda, Yasuhiro Ikeda, Koh-Hei Sonoda

    Retina (Philadelphia, Pa.)   42 ( 1 )   168 - 173   2021.8

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    DOI: 10.1097/IAE.0000000000003286

  • Drainage retinotomy confers risk of epiretinal membrane formation following vitrectomy for rhegmatogenous retinal detachment repair. International journal

    Keijiro Ishikawa, Masato Akiyama, Kenichiro Mori, Takahito Nakama, Shoji Notomi, Shintaro Nakao, Ri-Ichiro Kohno, Atsunobu Takeda, Koh-Hei Sonoda

    American journal of ophthalmology   234   20 - 27   2021.7

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    DOI: 10.1016/j.ajo.2021.07.028

  • Drusen and pigment abnormality predict the development of neovascular age-related macular degeneration in Japanese patients. International journal

    Shoji Notomi, Satomi Shiose, Keijiro Ishikawa, Yosuke Fukuda, Kumiko Kano, Kenichiro Mori, Iori Wada, Yoshihiro Kaizu, Hidetaka Matsumoto, Masato Akiyama, Koh-Hei Sonoda

    PloS one   16 ( 7 )   e0255213   2021.7

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    DOI: 10.1371/journal.pone.0255213

  • Cohort Profile: The Ganka-Ekigaku Network (GEN), a Network of Japanese Ophthalmological Epidemiology Studies. International journal

    Mariko Sasaki, Masahiro Miyake, Kohta Fujiwara, Hiroyuki Nanba, Masato Akiyama, Yasuo Yanagi, Sei Harada, Yasuharu Tabara, Miho Yasuda, Hidetoshi Yamashita, Takamasa Kayama, Kazuo Tsubota, Fumihiko Matsuda, Sawako Hashimoto, Emi Ueda, Toshiharu Ninomiya, Toru Takebayashi, Akitaka Tsujikawa, Koh-Hei Sonoda, Ryo Kawasaki

    Ophthalmic epidemiology   28 ( 3 )   237 - 243   2021.6

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    DOI: 10.1080/09286586.2020.1815803

  • Regional differences in genes and variants causing retinitis pigmentosa in Japan.

    Yoshito Koyanagi, Masato Akiyama, Koji M Nishiguchi, Yukihide Momozawa, Yoichiro Kamatani, Sadaaki Takata, Chihiro Inai, Yusuke Iwasaki, Mikako Kumano, Yusuke Murakami, Shiori Komori, Dan Gao, Kentaro Kurata, Katsuhiro Hosono, Shinji Ueno, Yoshihiro Hotta, Akira Murakami, Hiroko Terasaki, Yuko Wada, Toru Nakazawa, Tatsuro Ishibashi, Yasuhiro Ikeda, Michiaki Kubo, Koh-Hei Sonoda

    Japanese journal of ophthalmology   65 ( 3 )   338 - 343   2021.5

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    DOI: 10.1007/s10384-021-00824-w

  • Diabetic vascular hyperpermeability: optical coherence tomography angiography and functional loss assessments of relationships among retinal vasculature changes. International journal

    Mitsuru Arima, Shintaro Nakao, Yoshihiro Kaizu, Iori Wada, Muneo Yamaguchi, Kohta Fujiwara, Masato Akiyama, Alan W Stitt, Koh-Hei Sonoda

    Scientific reports   11 ( 1 )   4185 - 4185   2021.2

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    DOI: 10.1038/s41598-021-83334-6

  • Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients. International journal

    Yusuke Murakami, Yoshito Koyanagi, Masatoshi Fukushima, Marika Yoshimura, Kohta Fujiwara, Masato Akiyama, Yukihide Momozawa, Shinji Ueno, Hiroko Terasaki, Akio Oishi, Manabu Miyata, Hanako Ikeda, Akitaka Tsujikawa, Kei Mizobuchi, Takaaki Hayashi, Kaoru Fujinami, Kazushige Tsunoda, Jun Young Park, Jinu Han, Min Kim, Christopher Seungkyu Lee, Sang Jin Kim, Tae Kwann Park, Kwangsic Joo, Se Joon Woo, Yasuhiro Ikeda, Koh-Hei Sonoda

    Ophthalmology. Retina   5 ( 12 )   1269 - 1279   2021.2

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    DOI: 10.1016/j.oret.2021.02.009

  • Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. International journal

    Nature communications   12 ( 1 )   1258 - 1258   2021.2

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    DOI: 10.1038/s41467-020-20851-4

  • A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. International journal

    Koji M Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatsuhiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa

    Communications biology   4 ( 1 )   140 - 140   2021.1

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    DOI: 10.1038/s42003-021-01662-9

  • Multi-omics study for interpretation of genome-wide association study. International journal

    Masato Akiyama

    Journal of human genetics   66 ( 1 )   3 - 10   2021.1

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    DOI: 10.1038/s10038-020-00842-5

  • Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. International journal

    Nature genetics   52 ( 12 )   1303 - 1313   2020.12

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    DOI: 10.1038/s41588-020-00725-7

  • Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease. International journal

    Satoshi Koyama, Kaoru Ito, Chikashi Terao, Masato Akiyama, Momoko Horikoshi, Yukihide Momozawa, Hiroshi Matsunaga, Hirotaka Ieki, Kouichi Ozaki, Yoshihiro Onouchi, Atsushi Takahashi, Seitaro Nomura, Hiroyuki Morita, Hiroshi Akazawa, Changhoon Kim, Jeong-Sun Seo, Koichiro Higasa, Motoki Iwasaki, Taiki Yamaji, Norie Sawada, Shoichiro Tsugane, Teruhide Koyama, Hiroaki Ikezaki, Naoyuki Takashima, Keitaro Tanaka, Kokichi Arisawa, Kiyonori Kuriki, Mariko Naito, Kenji Wakai, Shinichiro Suna, Yasuhiko Sakata, Hiroshi Sato, Masatsugu Hori, Yasushi Sakata, Koichi Matsuda, Yoshinori Murakami, Hiroyuki Aburatani, Michiaki Kubo, Fumihiko Matsuda, Yoichiro Kamatani, Issei Komuro

    Nature genetics   52 ( 11 )   1169 - 1177   2020.11

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    DOI: 10.1038/s41588-020-0705-3

  • Study design and baseline characteristics of a population-based prospective cohort study of dementia in Japan: the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD). International journal

    Toshiharu Ninomiya, Shigeyuki Nakaji, Tetsuya Maeda, Masahito Yamada, Masaru Mimura, Kenji Nakashima, Takaaki Mori, Minoru Takebayashi, Tomoyuki Ohara, Jun Hata, Yoshihiro Kokubo, Kazuhiro Uchida, Yasuyuki Taki, Shuzo Kumagai, Koji Yonemoto, Hisako Yoshida, Kaori Muto, Yukihide Momozawa, Masato Akiyama, Michiaki Kubo, Manabu Ikeda, Shigenobu Kanba, Yutaka Kiyohara

    Environmental health and preventive medicine   25 ( 1 )   64 - 64   2020.10

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    DOI: 10.1186/s12199-020-00903-3

  • A cross-population atlas of genetic associations for 220 human phenotypes.

    Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha Karjalainen, Mitja Kurki, Seizo Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama, Kazuyoshi Ishigaki, Akari Suzuki, Ken Suzuki, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Shinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune, Kaoru Ito FinnGen, Chikashi Terao, Toshimasa Yamauchi, Issei Komuro, Takashi Kadowaki, Gen Tamiya, Masayuki Yamamoto, Yusuke Nakamura, Michiaki Kubo, Yoshinori Murakami, Kazuhiko Yamamoto, Yoichiro Kamatani, Aarno Palotie, Manuel A. Rivas, Mark J. Daly, Koichi Matsuda, Yukinori Okada

    2020.10

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    DOI: 10.1101/2020.10.23.20213652

  • Changes in metamorphopsia after the treat-and-extend regimen of anti-VEGF therapy for macular edema associated with branch retinal vein occlusion. International journal

    Kenichiro Mori, Keijiro Ishikawa, Iori Wada, Yuki Kubo, Yoshiyuki Kobayashi, Takahito Nakama, Masatoshi Haruta, Masato Akiyama, Shintaro Nakao, Shigeo Yoshida, Koh-Hei Sonoda

    PloS one   15 ( 10 )   e0241343   2020.10

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    DOI: 10.1371/journal.pone.0241343

  • The Polygenic and Monogenic Basis of Blood Traits and Diseases Invited Reviewed International journal

    Cell   182 ( 5 )   1214 - 1231   2020.9

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  • Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. International journal

    Cell   182 ( 5 )   1198 - 1213   2020.9

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    DOI: 10.1016/j.cell.2020.06.045

  • The Polygenic and Monogenic Basis of Blood Traits and Diseases. International journal

    Cell   182 ( 5 )   1214 - 1231   2020.9

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    DOI: 10.1016/j.cell.2020.08.008

  • Changes of Serum Inflammatory Molecules and Their Relationships with Visual Function in Retinitis Pigmentosa. International journal

    Ayako Okita, Yusuke Murakami, Shotaro Shimokawa, Jun Funatsu, Kohta Fujiwara, Shunji Nakatake, Yoshito Koyanagi, Masato Akiyama, Atsunobu Takeda, Toshio Hisatomi, Yasuhiro Ikeda, Koh-Hei Sonoda

    Investigative ophthalmology & visual science   61 ( 11 )   30 - 30   2020.9

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    DOI: 10.1167/iovs.61.11.30

  • Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations Invited Reviewed International journal

    Cell   182 ( 5 )   1189 - 1213   2020.9

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  • Chromosomal alterations among age-related haematopoietic clones in Japan Invited Reviewed International journal

    Terao C, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, Matsuda K, Murakami Y, McCaroll SA, Kubo M, Loh PR, Kamatani Y.

    Nature   584 ( 7819 )   130 - 135   2020.8

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    Language:Japanese   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41586-020-2426-2

  • Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients. International journal

    Yoshito Koyanagi, Shinji Ueno, Yasuki Ito, Taro Kominami, Shiori Komori, Masato Akiyama, Yusuke Murakami, Yasuhiro Ikeda, Koh-Hei Sonoda, Hiroko Terasaki

    Investigative ophthalmology & visual science   61 ( 10 )   6 - 6   2020.8

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    DOI: 10.1167/iovs.61.10.6

  • Chromosomal alterations among age-related haematopoietic clones in Japan. International journal

    Chikashi Terao, Akari Suzuki, Yukihide Momozawa, Masato Akiyama, Kazuyoshi Ishigaki, Kazuhiko Yamamoto, Koichi Matsuda, Yoshinori Murakami, Steven A McCarroll, Michiaki Kubo, Po-Ru Loh, Yoichiro Kamatani

    Nature   584 ( 7819 )   130 - 135   2020.8

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    DOI: 10.1038/s41586-020-2426-2

  • Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients Invited Reviewed International journal

    Koyanagi Y, Ueno S, Kominami T, Komori S, Akiyama M, Murakami Y, Ikeda Y, Sonoda KH, Terasaki H.

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   61 ( 10 )   2020.8

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    DOI: 10.1167/iovs.61.10.6

  • Genetic Variants Associated With the Onset and Progression of Primary Open-Angle Glaucoma Reviewed

    Fumihiko Mabuchi, Nakako Mabuchi, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Hiroyuki Iijima, Zentaro Yamagata, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Koji M. Nishiguchi, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie

    American journal of ophthalmology   215   135 - 140   2020.7

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    DOI: 10.1016/j.ajo.2020.03.014

  • Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood. International journal

    European journal of epidemiology   35 ( 7 )   685 - 697   2020.7

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    DOI: 10.1007/s10654-020-00638-z

  • Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. International journal

    Kazuyoshi Ishigaki, Masato Akiyama, Masahiro Kanai, Atsushi Takahashi, Eiryo Kawakami, Hiroki Sugishita, Saori Sakaue, Nana Matoba, Siew-Kee Low, Yukinori Okada, Chikashi Terao, Tiffany Amariuta, Steven Gazal, Yuta Kochi, Momoko Horikoshi, Ken Suzuki, Kaoru Ito, Satoshi Koyama, Kouichi Ozaki, Shumpei Niida, Yasushi Sakata, Yasuhiko Sakata, Takashi Kohno, Kouya Shiraishi, Yukihide Momozawa, Makoto Hirata, Koichi Matsuda, Masashi Ikeda, Nakao Iwata, Shiro Ikegawa, Ikuyo Kou, Toshihiro Tanaka, Hidewaki Nakagawa, Akari Suzuki, Tomomitsu Hirota, Mayumi Tamari, Kazuaki Chayama, Daiki Miki, Masaki Mori, Satoshi Nagayama, Yataro Daigo, Yoshio Miki, Toyomasa Katagiri, Osamu Ogawa, Wataru Obara, Hidemi Ito, Teruhiko Yoshida, Issei Imoto, Takashi Takahashi, Chizu Tanikawa, Takao Suzuki, Nobuaki Sinozaki, Shiro Minami, Hiroki Yamaguchi, Satoshi Asai, Yasuo Takahashi, Ken Yamaji, Kazuhisa Takahashi, Tomoaki Fujioka, Ryo Takata, Hideki Yanai, Akihide Masumoto, Yukihiro Koretsune, Hiromu Kutsumi, Masahiko Higashiyama, Shigeo Murayama, Naoko Minegishi, Kichiya Suzuki, Kozo Tanno, Atsushi Shimizu, Taiki Yamaji, Motoki Iwasaki, Norie Sawada, Hirokazu Uemura, Keitaro Tanaka, Mariko Naito, Makoto Sasaki, Kenji Wakai, Shoichiro Tsugane, Masayuki Yamamoto, Kazuhiko Yamamoto, Yoshinori Murakami, Yusuke Nakamura, Soumya Raychaudhuri, Johji Inazawa, Toshimasa Yamauchi, Takashi Kadowaki, Michiaki Kubo, Yoichiro Kamatani

    Nature genetics   52 ( 7 )   669 - 679   2020.7

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    DOI: 10.1038/s41588-020-0640-3

  • Genetic Variants Associated With the Onset and Progression of Primary Open-Angle Glaucoma. International journal

    Fumihiko Mabuchi, Nakako Mabuchi, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Hiroyuki Iijima, Zentaro Yamagata, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Koji M Nishiguchi, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie

    American journal of ophthalmology   215   135 - 140   2020.7

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    DOI: 10.1016/j.ajo.2020.03.014

  • Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan. International journal

    Minhui Chen, Carlo Sidore, Masato Akiyama, Kazuyoshi Ishigaki, Yoichiro Kamatani, David Schlessinger, Francesco Cucca, Yukinori Okada, Charleston W K Chiang

    American journal of human genetics   107 ( 1 )   60 - 71   2020.7

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    DOI: 10.1016/j.ajhg.2020.05.014

  • Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram. International journal

    Koji M Nishiguchi, Hiroshi Kunikata, Kosuke Fujita, Kazuki Hashimoto, Yoshito Koyanagi, Masato Akiyama, Yasuhiro Ikeda, Yukihide Momozawa, Koh-Hei Sonoda, Akira Murakami, Yuko Wada, Toru Nakazawa

    Clinical & experimental ophthalmology   48 ( 5 )   644 - 657   2020.7

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    DOI: 10.1111/ceo.13743

  • A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.

    Koji Miura Nishiguchi, Kosuke Fujita, Yasuhiro Ikeda, Hiroshi Kunikata, Yoshito Koyanagi, Masato Akiyama, Toshiaki Abe, Yuko Wada, Koh-Hei Sonoda, Toru Nakazawa

    Japanese journal of ophthalmology   64 ( 4 )   346 - 350   2020.7

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    DOI: 10.1007/s10384-020-00732-5

  • Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood Invited Reviewed International journal

    Eur J. Epidemiol   35 ( 7 )   685 - 697   2020.7

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  • Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan Invited Reviewed International journal

    Chen M, Sidore C, Akiyama M, Ishigaki K, Kamatani Y, Schlessinger D, Cucca F, Okada Y, Charleston WK

    AMERICAN JOURNAL OF HUMAN GENETICS   107 ( 1 )   60 - 71   2020.7

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    DOI: 10.1016/j.ajhg.2020.05.014

  • Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease. International journal

    Hiroshi Matsunaga, Kaoru Ito, Masato Akiyama, Atsushi Takahashi, Satoshi Koyama, Seitaro Nomura, Hirotaka Ieki, Kouichi Ozaki, Yoshihiro Onouchi, Saori Sakaue, Shinichiro Suna, Soichi Ogishima, Masayuki Yamamoto, Atsushi Hozawa, Mamoru Satoh, Makoto Sasaki, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Keitaro Tanaka, Kokichi Arisawa, Hiroaki Ikezaki, Naoyuki Takashima, Mariko Naito, Kenji Wakai, Hideo Tanaka, Yasuhiko Sakata, Hiroyuki Morita, Yasushi Sakata, Koichi Matsuda, Yoshinori Murakami, Hiroshi Akazawa, Michiaki Kubo, Yoichiro Kamatani, Issei Komuro

    Circulation. Genomic and precision medicine   13 ( 3 )   e002670   2020.6

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    DOI: 10.1161/CIRCGEN.119.002670

  • Identification of type 2 diabetes loci in 433,540 East Asian individuals. International journal

    Cassandra N Spracklen, Momoko Horikoshi, Young Jin Kim, Kuang Lin, Fiona Bragg, Sanghoon Moon, Ken Suzuki, Claudia H T Tam, Yasuharu Tabara, Soo-Heon Kwak, Fumihiko Takeuchi, Jirong Long, Victor J Y Lim, Jin-Fang Chai, Chien-Hsiun Chen, Masahiro Nakatochi, Jie Yao, Hyeok Sun Choi, Apoorva K Iyengar, Hannah J Perrin, Sarah M Brotman, Martijn van de Bunt, Anna L Gloyn, Jennifer E Below, Michael Boehnke, Donald W Bowden, John C Chambers, Anubha Mahajan, Mark I McCarthy, Maggie C Y Ng, Lauren E Petty, Weihua Zhang, Andrew P Morris, Linda S Adair, Masato Akiyama, Zheng Bian, Juliana C N Chan, Li-Ching Chang, Miao-Li Chee, Yii-Der Ida Chen, Yuan-Tsong Chen, Zhengming Chen, Lee-Ming Chuang, Shufa Du, Penny Gordon-Larsen, Myron Gross, Xiuqing Guo, Yu Guo, Sohee Han, Annie-Green Howard, Wei Huang, Yi-Jen Hung, Mi Yeong Hwang, Chii-Min Hwu, Sahoko Ichihara, Masato Isono, Hye-Mi Jang, Guozhi Jiang, Jost B Jonas, Yoichiro Kamatani, Tomohiro Katsuya, Takahisa Kawaguchi, Chiea-Chuen Khor, Katsuhiko Kohara, Myung-Shik Lee, Nanette R Lee, Liming Li, Jianjun Liu, Andrea O Luk, Jun Lv, Yukinori Okada, Mark A Pereira, Charumathi Sabanayagam, Jinxiu Shi, Dong Mun Shin, Wing Yee So, Atsushi Takahashi, Brian Tomlinson, Fuu-Jen Tsai, Rob M van Dam, Yong-Bing Xiang, Ken Yamamoto, Toshimasa Yamauchi, Kyungheon Yoon, Canqing Yu, Jian-Min Yuan, Liang Zhang, Wei Zheng, Michiya Igase, Yoon Shin Cho, Jerome I Rotter, Ya-Xing Wang, Wayne H H Sheu, Mitsuhiro Yokota, Jer-Yuarn Wu, Ching-Yu Cheng, Tien-Yin Wong, Xiao-Ou Shu, Norihiro Kato, Kyong-Soo Park, E-Shyong Tai, Fumihiko Matsuda, Woon-Puay Koh, Ronald C W Ma, Shiro Maeda, Iona Y Millwood, Juyoung Lee, Takashi Kadowaki, Robin G Walters, Bong-Jo Kim, Karen L Mohlke, Xueling Sim

    Nature   582 ( 7811 )   240 - 245   2020.6

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    DOI: 10.1038/s41586-020-2263-3

  • Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. International journal

    Yingsong Lin, Masahiro Nakatochi, Yasuyuki Hosono, Hidemi Ito, Yoichiro Kamatani, Akihito Inoko, Hiromi Sakamoto, Fumie Kinoshita, Yumiko Kobayashi, Hiroshi Ishii, Masato Ozaka, Takashi Sasaki, Masato Matsuyama, Naoki Sasahira, Manabu Morimoto, Satoshi Kobayashi, Taito Fukushima, Makoto Ueno, Shinichi Ohkawa, Naoto Egawa, Sawako Kuruma, Mitsuru Mori, Haruhisa Nakao, Yasushi Adachi, Masumi Okuda, Takako Osaki, Shigeru Kamiya, Chaochen Wang, Kazuo Hara, Yasuhiro Shimizu, Tatsuo Miyamoto, Yuko Hayashi, Hiromichi Ebi, Tomohiro Kohmoto, Issei Imoto, Yumiko Kasugai, Yoshinori Murakami, Masato Akiyama, Kazuyoshi Ishigaki, Koichi Matsuda, Makoto Hirata, Kazuaki Shimada, Takuji Okusaka, Takahisa Kawaguchi, Meiko Takahashi, Yoshiyuki Watanabe, Kiyonori Kuriki, Aya Kadota, Rieko Okada, Haruo Mikami, Toshiro Takezaki, Sadao Suzuki, Taiki Yamaji, Motoki Iwasaki, Norie Sawada, Atsushi Goto, Kengo Kinoshita, Nobuo Fuse, Fumiki Katsuoka, Atsushi Shimizu, Satoshi S Nishizuka, Kozo Tanno, Ken Suzuki, Yukinori Okada, Momoko Horikoshi, Toshimasa Yamauchi, Takashi Kadowaki, Herbert Yu, Jun Zhong, Laufey T Amundadottir, Yuichiro Doki, Hideshi Ishii, Hidetoshi Eguchi, David Bogumil, Christopher A Haiman, Loic Le Marchand, Masaki Mori, Harvey Risch, Veronica W Setiawan, Shoichiro Tsugane, Kenji Wakai, Teruhiko Yoshida, Fumihiko Matsuda, Michiaki Kubo, Shogo Kikuchi, Keitaro Matsuo

    Nature communications   11 ( 1 )   3175 - 3175   2020.6

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    DOI: 10.1038/s41467-020-16711-w

  • Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer Invited Reviewed International journal

    Lin Y, Nakatochi M, Hosono Y, Ito H, Kamatani Y, Inoko A, Sakamoto H, Kinoshita F, Kobayashi Y, Ishii H, Ozaka M, Sasaki T, Matsuyama M, Sasahira N, Morimoto M, Kobayashi S, Fukushima T, Ueno M, Ohkawa S, Egawa N, Kuruma S, Mori M, Nakao H, Adachi Y, Okuda M, Osaki T, Kamiya S, Wang C, Hara K, Shimizu Y, Miyamoto T, Hayashi Y, Ebi H, Kohmoto T, Imoto I, Kasugai Y, Murakami Y, Akiyama M, Ishigaki K, Matsuda K, Hirata M, Shimada K, Okusaka T, Kawaguchi T, Takahashi M, Watanabe Y, Kuriki K, Kadota A, Okada R, Mikami H, Takezaki T, Suzuki S, Yamaji T, Iwasaki M, Sawada N, Goto A, Kinoshita K, Fuse N, Katsuoka F, Shimizu A, Nishizuka SS, Tanno K, Suzuki K, Okada Y, Horikoshi M, Yamauchi T, Kadowaki T, Yu H, Zhong J, Amundadottir LT, Doki Y, Ishii H, Eguchi H, Bogumil D, Haiman CA, Marchand LL, Mori M, Risch H, Setiawan VW, Tsugane S, Wakai K, Yoshida T, Matsuda F, Kubo M, Kikuchi S, Matsuo K

    NATURE COMMUNICATIONS   11 ( 1 )   2020.6

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    DOI: 10.1038/s41467-020-16711-w

  • Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease Invited Reviewed International journal

    Matsunaga H, Ito K, Akiyama M, Takahashi A, Koyama S, Nomura S, Ieki H, Ozaki K, Onouchi Y, Sakaue S, Suna S, Ogishima S, Yamamoto M, Hozawa A, Satoh M, Sasaki M, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Tanaka K, Arisawa K, Ikezaki H, Takashima N, Naito M, Wakai K, Sakata Y, Morita H, Sakata Y, Matsuda K, Murakami Y, Akazawa H, Kubo M, Kamatani Y, Komuro I.

    CIRCULATION-GENOMIC AND PRECISION MEDICINE   13 ( 3 )   128 - 138   2020.6

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    DOI: 10.1161/CIRCGEN.119.002670

  • Identification of type 2 diabetes loci in 433,540 East Asian individuals. Reviewed International journal

    Spracklen CN, Horikoshi M, Kim YJ, Lin K, Bragg F, Moon S, Suzuki K, Tam CHT, Tabara Y, Kwak SH, Takeuchi F, Long J, Lim VJY, Chai JF, Chen CH, Nakatochi M, Yao J, Choi HS, Iyengar AK, Perrin HJ, Brotman SM, van de Bunt M, Gloyn AL, Below JE, Boehnke M, Bowden DW, Chambers JC, Mahajan A, McCarthy MI, Ng MCY, Petty JE, Zhang W, Morris AP, Adair LS, Akiyama M, Bian Z, Chan JCN, Chang LC, Chee ML, Chen YI, Chen YT, Chen Z, Chuang LM, Du S, Gordon-Larsen P, Gross M, Guo X, Guo Y, Han S, Howard AG, Huang W, Hung YJ, Hwang MY, Hwu CM, Ichihara S, Isono M, Jang HM, Jiang G, Jonas JB, Kamatani Y, Katsuya T, Kawaguchi T, Khor CC, Kohara K, Lee MS, Lee NR, Li L, Liu J, Luk AO, Lv J, Okada Y, Pereira MA, Sabanayagam C, Shi J, Shin DM, So WY, Takahashi A, Tomlinson B, Tsai FJ, van Dam RM, Xiang YB, Yamamoto K, Yamauchi T, Yoon K, Yu C, Yuan JM, Zhang L, Zheng W, Igase M, Cho YS, Rotter JI, Wang YX, Sheu WHH, Yokota M, Wu JY, Cheng CY, Wong TY, Shu XO, Kato N, Park KS, Tai ES, Matsuda F, Koh WP, Ma RCW, Maeda S, Millwood IY, Lee J, Kadowaki T, Walters RG, Kim BJ, Mohlke KL, Sim X.

    Nature   582   240 - 245   2020.5

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  • Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan Reviewed

    Sakaue S, Kanai M, Karjalainen J, Akiyama M, Kurki M, Matoba N, Takahashi A, Hirata M, Kubo M, Matsuda K, Murakami Y; FinnGen, Daly MJ, Kamatani Y, Okada Y.

    Nature Medicine   26 ( 4 )   542 - 548   2020.4

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    DOI: 10.1038/s41591-020-0785-8

  • Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan. International journal

    Saori Sakaue, Masahiro Kanai, Juha Karjalainen, Masato Akiyama, Mitja Kurki, Nana Matoba, Atsushi Takahashi, Makoto Hirata, Michiaki Kubo, Koichi Matsuda, Yoshinori Murakami, Mark J Daly, Yoichiro Kamatani, Yukinori Okada

    Nature medicine   26 ( 4 )   542 - 548   2020.4

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    DOI: 10.1038/s41591-020-0785-8

  • Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction Reviewed

    Saori Sakaue, Jun Hirata, Masahiro Kanai, Ken Suzuki, Masato Akiyama, Chun Lai Too, Thurayya Arayssi, Mohammed Hammoudeh, Samar Al Emadi, Basel K. Masri, Hussein Halabi, Humeira Badsha, Imad W. Uthman, Richa Saxena, Leonid Padyukov, Makoto Hirata, Koichi Matsuda, Yoshinori Murakami, Yoichiro Kamatani, Yukinori Okada

    Nature communications   11 ( 1 )   2020.3

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    DOI: 10.1038/s41467-020-15194-z

  • Increased expression of periostin and tenascin-C in eyes with neovascular glaucoma secondary to PDR Reviewed

    Keijiro Ishikawa, Ri ichiro Kohno, Kenichiro Mori, Yusuke Murakami, Shintaro Nakao, Masato Akiyama, Shigeo Yoshida, Koh Hei Sonoda

    Graefe's Archive for Clinical and Experimental Ophthalmology   258 ( 3 )   621 - 628   2020.3

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    DOI: 10.1007/s00417-019-04574-x

  • Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population Reviewed

    Saori Sakaue, Masato Akiyama, Makoto Hirata, Koichi Matsuda, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

    European Journal of Human Genetics   28 ( 3 )   378 - 382   2020.3

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    DOI: 10.1038/s41431-019-0518-y

  • Characterizing rare and low-frequency height-associated variants in the Japanese population (vol 10, 4393, 2019) Reviewed International journal

    Masato Akiyama, Kazuyoshi Ishigaki, Saori Sakaue, Yukihide Momozawa, Momoko Horikoshi, Makoto Hirata, Koichi Matsuda, Shiro Ikegawa, Atsushi Takahashi, Masahiro Kanai, Sadao Suzuki, Daisuke Matsui, Mariko Naito, Taiki Yamaji, Motoki Iwasaki, Norie Sawada, Kozo Tanno, Makoto Sasaki, Atsushi Hozawa, Naoko Minegishi, Kenji Wakai, Shoichiro Tsugane, Atsushi Shimizu, Masayuki Yamamoto, Yukinori Okada, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani

    NATURE COMMUNICATIONS   11 ( 1 )   1350 - 1350   2020.3

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    DOI: 10.1038/s41467-020-15202-2

  • Neurodevelopmental outcomes following intravitreal bevacizumab injection in Japanese preterm infants with type 1 retinopathy of prematurity. International journal

    Mitsuru Arima, Masato Akiyama, Kohta Fujiwara, Yujiro Mori, Hirosuke Inoue, Eiko Seki, Takahito Nakama, Shoko Tsukamoto, Masayuki Ochiai, Shouichi Ohga, Koh-Hei Sonoda

    PloS one   15 ( 3 )   e0230678   2020.3

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    DOI: 10.1371/journal.pone.0230678

  • Increased expression of periostin and tenascin-C in eyes with neovascular glaucoma secondary to PDR. International journal

    Keijiro Ishikawa, Ri-Ichiro Kohno, Kenichiro Mori, Yusuke Murakami, Shintaro Nakao, Masato Akiyama, Shigeo Yoshida, Koh-Hei Sonoda

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie   258 ( 3 )   621 - 628   2020.3

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    DOI: 10.1007/s00417-019-04574-x

  • GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits. International journal

    Nana Matoba, Masato Akiyama, Kazuyoshi Ishigaki, Masahiro Kanai, Atsushi Takahashi, Yukihide Momozawa, Shiro Ikegawa, Masashi Ikeda, Nakao Iwata, Makoto Hirata, Koichi Matsuda, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

    Nature human behaviour   4 ( 3 )   308 - 316   2020.3

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    DOI: 10.1038/s41562-019-0805-1

  • Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population. International journal

    Saori Sakaue, Masato Akiyama, Makoto Hirata, Koichi Matsuda, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

    European journal of human genetics : EJHG   28 ( 3 )   378 - 382   2020.3

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    DOI: 10.1038/s41431-019-0518-y

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    Saori Sakaue, Jun Hirata, Masahiro Kanai, Ken Suzuki, Masato Akiyama, Chun Lai Too, Thurayya Arayssi, Mohammed Hammoudeh, Samar Al Emadi, Basel K Masri, Hussein Halabi, Humeira Badsha, Imad W Uthman, Richa Saxena, Leonid Padyukov, Makoto Hirata, Koichi Matsuda, Yoshinori Murakami, Yoichiro Kamatani, Yukinori Okada

    Nature communications   11 ( 1 )   1569 - 1569   2020.3

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    DOI: 10.1038/s41467-020-15194-z

  • Microaneurysm Imaging Using Multiple En Face OCT Angiography Image Averaging: Morphology and Visualization. International journal

    Yoshihiro Kaizu, Shintaro Nakao, Iori Wada, Mitsuru Arima, Muneo Yamaguchi, Keijiro Ishikawa, Masato Akiyama, Junji Kishimoto, Toshio Hisatomi, Koh-Hei Sonoda

    Ophthalmology. Retina   4 ( 2 )   175 - 186   2020.2

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    DOI: 10.1016/j.oret.2019.09.010

  • Microaneurysm Imaging Using Multiple En Face OCT Angiography Image Averaging Morphology and Visualization Reviewed

    Yoshihiro Kaizu, Shintaro Nakao, Iori Wada, Mitsuru Arima, Muneo Yamaguchi, Keijiro Ishikawa, Masato Akiyama, Junji Kishimoto, Toshio Hisatomi, Koh Hei Sonoda

    Ophthalmology Retina   4 ( 2 )   175 - 186   2020.2

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    DOI: 10.1016/j.oret.2019.09.010

  • Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram Invited Reviewed International journal

    Nishiguchi KM, Kunikata H, Fujita K, Hashimoto K, Koyanagi Y, Akiyama M, Ikeda Y, Momozawa Y, Sonoda KH, Murakami A, Wada Y, Nakazawa T.

    Clinical and Experimental Ophthalmology   2020.1

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    DOI: 10.1111/ceo.13743

  • Neurodevelopmental outcomes following intravitreal bevacizumab injection in Japanese preterm infants with type 1 retinopathy of prematurity Reviewed

    Mitsuru Arima, Masato Akiyama, Kohta Fujiwara, Yujiro Mori, Hirosuke Inoue, Eiko Seki, Takahito Nakama, Shoko Tsukamoto, Masayuki Ochiai, Shouichi Ohga, Koh Hei Sonoda

    PloS one   15 ( 3 )   2020.1

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    DOI: 10.1371/journal.pone.0230678

  • GWAS of five gynecologic diseases and cross-trait analysis in Japanese Reviewed

    Tatsuo Masuda, Siew Kee Low, Masato Akiyama, Makoto Hirata, Yutaka Ueda, Koichi Matsuda, Tadashi Kimura, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

    European Journal of Human Genetics   28 ( 1 )   95 - 107   2020.1

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    DOI: 10.1038/s41431-019-0495-1

  • Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram Reviewed

    Koji M. Nishiguchi, Hiroshi Kunikata, Kosuke Fujita, Kazuki Hashimoto, Yoshito Koyanagi, Masato Akiyama, Yasuhiro Ikeda, Yukihide Momozawa, Koh Hei Sonoda, Akira Murakami, Yuko Wada, Toru Nakazawa

    Clinical and Experimental Ophthalmology   2020.1

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    DOI: 10.1111/ceo.13743

  • A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa Reviewed

    Koji Miura Nishiguchi, Kosuke Fujita, Yasuhiro Ikeda, Hiroshi Kunikata, Yoshito Koyanagi, Masato Akiyama, Toshiaki Abe, Yuko Wada, Koh Hei Sonoda, Toru Nakazawa

    Japanese Journal of Ophthalmology   2020.1

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    DOI: 10.1007/s10384-020-00732-5

  • GWAS of five gynecologic diseases and cross-trait analysis in Japanese. International journal

    Tatsuo Masuda, Siew-Kee Low, Masato Akiyama, Makoto Hirata, Yutaka Ueda, Koichi Matsuda, Tadashi Kimura, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

    European journal of human genetics : EJHG   28 ( 1 )   95 - 107   2020.1

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    DOI: 10.1038/s41431-019-0495-1

  • Direct comparison of retinal structure and function in retinitis pigmentosa by co-registering microperimetry and optical coherence tomography. International journal

    Jun Funatsu, Yusuke Murakami, Shunji Nakatake, Masato Akiyama, Kohta Fujiwara, Shotaro Shimokawa, Takashi Tachibana, Toshio Hisatomi, Yoshito Koyanagi, Yukihide Momozawa, Koh-Hei Sonoda, Yasuhiro Ikeda

    PloS one   14 ( 12 )   e0226097   2019.12

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    DOI: 10.1371/journal.pone.0226097

  • Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals Reviewed

    Masahiro Nakatochi, Masahiro Kanai, Akiyoshi Nakayama, Asahi Hishida, Yusuke Kawamura, Sahoko Ichihara, Masato Akiyama, Hiroaki Ikezaki, Norihiro Furusyo, Seiko Shimizu, Ken Yamamoto, Makoto Hirata, Rieko Okada, Sayo Kawai, Makoto Kawaguchi, Yuichiro Nishida, Chisato Shimanoe, Rie Ibusuki, Toshiro Takezaki, Mayuko Nakajima, Mikiya Takao, Etsuko Ozaki, Daisuke Matsui, Takeshi Nishiyama, Sadao Suzuki, Naoyuki Takashima, Yoshikuni Kita, Kaori Endoh, Kiyonori Kuriki, Hirokazu Uemura, Kokichi Arisawa, Isao Oze, Keitaro Matsuo, Yohko Nakamura, Haruo Mikami, Takashi Tamura, Hiroshi Nakashima, Takahiro Nakamura, Norihiro Kato, Koichi Matsuda, Yoshinori Murakami, Tatsuaki Matsubara, Mariko Naito, Michiaki Kubo, Yoichiro Kamatani, Nariyoshi Shinomiya, Mitsuhiro Yokota, Kenji Wakai, Yukinori Okada, Hirotaka Matsuo

    Communications Biology   2 ( 1 )   2019.12

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    DOI: 10.1038/s42003-019-0339-0

  • GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation Reviewed

    Chikashi Terao, Yukihide Momozawa, Kazuyoshi Ishigaki, Eiryo Kawakami, Masato Akiyama, Po Ru Loh, Giulio Genovese, Hiroki Sugishita, Tazro Ohta, Makoto Hirata, John R.B. Perry, Koichi Matsuda, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani

    Nature communications   10 ( 1 )   2019.12

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    DOI: 10.1038/s41467-019-12705-5

  • Associations of autozygosity with a broad range of human phenotypes Reviewed

    Nature communications   10 ( 1 )   2019.12

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    DOI: 10.1038/s41467-019-12283-6

  • A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy Reviewed

    Nature communications   10 ( 1 )   2019.12

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    DOI: 10.1038/s41467-019-10746-4

  • Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population. International journal

    Ikuo Otsuka, Masato Akiyama, Osamu Shirakawa, Satoshi Okazaki, Yukihide Momozawa, Yoichiro Kamatani, Takeshi Izumi, Shusuke Numata, Motonori Takahashi, Shuken Boku, Ichiro Sora, Ken Yamamoto, Yasuhiro Ueno, Tatsushi Toda, Michiaki Kubo, Akitoyo Hishimoto

    Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology   44 ( 12 )   2119 - 2124   2019.11

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    DOI: 10.1038/s41386-019-0506-5

  • Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations A Long-Term Follow-up Study Reviewed

    Koji M. Nishiguchi, Yasuhiro Ikeda, Kosuke Fujita, Hiroshi Kunikata, Makoto Akiho, Kazuki Hashimoto, Katsuhiro Hosono, Kentaro Kurata, Yoshito Koyanagi, Masato Akiyama, Takefumi Suzuki, Ryo Kawasaki, Yuko Wada, Yoshihiro Hotta, Koh Hei Sonoda, Akira Murakami, Mitsuru Nakazawa, Toru Nakazawa, Toshiaki Abe

    Ophthalmology   126 ( 11 )   1557 - 1566   2019.11

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    DOI: 10.1016/j.ophtha.2019.05.027

  • Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population Reviewed

    Ikuo Otsuka, Masato Akiyama, Osamu Shirakawa, Satoshi Okazaki, Yukihide Momozawa, Yoichiro Kamatani, Takeshi Izumi, Shusuke Numata, Motonori Takahashi, Shuken Boku, Ichiro Sora, Ken Yamamoto, Yasuhiro Ueno, Tatsushi Toda, Michiaki Kubo, Akitoyo Hishimoto

    Neuropsychopharmacology   44 ( 12 )   2119 - 2124   2019.11

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    DOI: 10.1038/s41386-019-0506-5

  • Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study. International journal

    Koji M Nishiguchi, Yasuhiro Ikeda, Kosuke Fujita, Hiroshi Kunikata, Makoto Akiho, Kazuki Hashimoto, Katsuhiro Hosono, Kentaro Kurata, Yoshito Koyanagi, Masato Akiyama, Takefumi Suzuki, Ryo Kawasaki, Yuko Wada, Yoshihiro Hotta, Koh-Hei Sonoda, Akira Murakami, Mitsuru Nakazawa, Toru Nakazawa, Toshiaki Abe

    Ophthalmology   126 ( 11 )   1557 - 1566   2019.11

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    DOI: 10.1016/j.ophtha.2019.05.027

  • HLA-DQ and RBFOX1 as susceptibility genes for an outbreak of hydrolyzed wheat allergy. International journal

    Emiko Noguchi, Masato Akiyama, Akiko Yagami, Tomomitsu Hirota, Yukinori Okada, Zenichiro Kato, Reiko Kishikawa, Yuma Fukutomi, Michihiro Hide, Eishin Morita, Michiko Aihara, Makiko Hiragun, Yuko Chinuki, Takahiro Okabe, Akiko Ito, Atsuko Adachi, Atsushi Fukunaga, Yumiko Kubota, Toshiyuki Aoki, Youko Aoki, Kazue Nishioka, Tetsuya Adachi, Nobuo Kanazawa, Hitoshi Miyazawa, Hiroyuki Sakai, Takehito Kozuka, Hideo Kitamura, Hideo Hashizume, Chiharu Kanegane, Koji Masuda, Kumiya Sugiyama, Reiko Tokuda, Junichi Furuta, Ikkou Higashimoto, Atsuko Kato, Mariko Seishima, Akihiko Tajiri, Atsuko Tomura, Hiroko Taniguchi, Hiroto Kojima, Hidenori Tanaka, Aiko Sakai, Wataru Morii, Masashi Nakamura, Yoichiro Kamatani, Atsushi Takahashi, Michiaki Kubo, Mayumi Tamari, Hirohisa Saito, Kayoko Matsunaga

    The Journal of allergy and clinical immunology   144 ( 5 )   1354 - 1363   2019.11

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    DOI: 10.1016/j.jaci.2019.06.034

  • Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients Reviewed

    Yoshito Koyanagi, Masato Akiyama, Koji M. Nishiguchi, Yukihide Momozawa, Yoichiro Kamatani, Sadaaki Takata, Chihiro Inai, Yusuke Iwasaki, Mikako Kumano, Yusuke Murakami, Kazuko Omodaka, Toshiaki Abe, Shiori Komori, Dan Gao, Toshiaki Hirakata, Kentaro Kurata, Katsuhiro Hosono, Shinji Ueno, Yoshihiro Hotta, Akira Murakami, Hiroko Terasaki, Yuko Wada, Toru Nakazawa, Tatsuro Ishibashi, Yasuhiro Ikeda, Michiaki Kubo, Koh Hei Sonoda

    Journal of medical genetics   56 ( 10 )   662 - 670   2019.10

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    DOI: 10.1136/jmedgenet-2018-105691

  • Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. International journal

    Nature genetics   51 ( 10 )   1459 - 1474   2019.10

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    DOI: 10.1038/s41588-019-0504-x

  • Relationships Between Serum Antioxidant and Oxidant Statuses and Visual Function in Retinitis Pigmentosa. International journal

    Masataka Ishizu, Yusuke Murakami, Kohta Fujiwara, Jun Funatsu, Shotaro Shimokawa, Shunji Nakatake, Takashi Tachibana, Toshio Hisatomi, Yoshito Koyanagi, Masato Akiyama, Yukihide Momozawa, Tatsuro Ishibashi, Koh-Hei Sonoda, Yasuhiro Ikeda

    Investigative ophthalmology & visual science   60 ( 13 )   4462 - 4468   2019.10

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    DOI: 10.1167/iovs.19-26927

  • Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. International journal

    Yoshito Koyanagi, Masato Akiyama, Koji M Nishiguchi, Yukihide Momozawa, Yoichiro Kamatani, Sadaaki Takata, Chihiro Inai, Yusuke Iwasaki, Mikako Kumano, Yusuke Murakami, Kazuko Omodaka, Toshiaki Abe, Shiori Komori, Dan Gao, Toshiaki Hirakata, Kentaro Kurata, Katsuhiro Hosono, Shinji Ueno, Yoshihiro Hotta, Akira Murakami, Hiroko Terasaki, Yuko Wada, Toru Nakazawa, Tatsuro Ishibashi, Yasuhiro Ikeda, Michiaki Kubo, Koh-Hei Sonoda

    Journal of medical genetics   56 ( 10 )   662 - 670   2019.10

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    DOI: 10.1136/jmedgenet-2018-105691

  • GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation. International journal

    Chikashi Terao, Yukihide Momozawa, Kazuyoshi Ishigaki, Eiryo Kawakami, Masato Akiyama, Po-Ru Loh, Giulio Genovese, Hiroki Sugishita, Tazro Ohta, Makoto Hirata, John R B Perry, Koichi Matsuda, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani

    Nature communications   10 ( 1 )   4719 - 4719   2019.10

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    DOI: 10.1038/s41467-019-12705-5

  • Associations of autozygosity with a broad range of human phenotypes. International journal

    Nature communications   10 ( 1 )   4957 - 4957   2019.10

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    DOI: 10.1038/s41467-019-12283-6

  • Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels Reviewed

    Nature genetics   51 ( 10 )   1459 - 1474   2019.10

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    DOI: 10.1038/s41588-019-0504-x

  • Association of Birth Weight With Type 2 Diabetes and Glycemic Traits A Mendelian Randomization Study Reviewed

    JAMA network open   2 ( 9 )   e1910915   2019.9

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    DOI: 10.1001/jamanetworkopen.2019.10915

  • Characterizing rare and low-frequency height-associated variants in the Japanese population. International journal

    Masato Akiyama, Kazuyoshi Ishigaki, Saori Sakaue, Yukihide Momozawa, Momoko Horikoshi, Makoto Hirata, Koichi Matsuda, Shiro Ikegawa, Atsushi Takahashi, Masahiro Kanai, Sadao Suzuki, Daisuke Matsui, Mariko Naito, Taiki Yamaji, Motoki Iwasaki, Norie Sawada, Kozo Tanno, Makoto Sasaki, Atsushi Hozawa, Naoko Minegishi, Kenji Wakai, Shoichiro Tsugane, Atsushi Shimizu, Masayuki Yamamoto, Yukinori Okada, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani

    Nature communications   10 ( 1 )   4393 - 4393   2019.9

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    DOI: 10.1038/s41467-019-12276-5

  • Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study. International journal

    JAMA network open   2 ( 9 )   e1910915   2019.9

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    DOI: 10.1001/jamanetworkopen.2019.10915

  • Association Between Genetic Risk and Development of Type 2 Diabetes in a General Japanese Population: The Hisayama Study. International journal

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    The Journal of clinical endocrinology and metabolism   104 ( 8 )   3213 - 3222   2019.8

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    DOI: 10.1210/jc.2018-01782

  • Prediction of glaucomatous visual field progression by genetic variants associated with primary open-angle glaucoma

    Fumihiko Mabuchi, Yoichi Sakurada, Kenji Kashiwagi, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Koji Nishiguchi, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   60 ( 9 )   2019.7

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  • A catalog of genetic loci associated with kidney function from analyses of a million individuals Reviewed

    Nature genetics   51 ( 6 )   957 - 972   2019.6

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    DOI: 10.1038/s41588-019-0407-x

  • Early detection of cone photoreceptor cell loss in retinitis pigmentosa using adaptive optics scanning laser ophthalmoscopy Reviewed

    Shunji Nakatake, Yusuke Murakami, Jun Funatsu, Yoshito Koyanagi, Masato Akiyama, Yukihide Momozawa, Tatsuro Ishibashi, Koh Hei Sonoda, Yasuhiro Ikeda

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie   257 ( 6 )   1169 - 1181   2019.6

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    DOI: 10.1007/s00417-019-04307-0

  • Association between Genetic Risk and Development of Type 2 Diabetes in a General Japanese Population The Hisayama Study Reviewed

    Jun Inaishi, Yoichiro Hirakawa, Momoko Horikoshi, Masato Akiyama, Mayu Higashioka, Masahito Yoshinari, Jun Hata, Naoko Mukai, Yoichiro Kamatani, Yukihide Momozawa, Michiaki Kubo, Toshiharu Ninomiya

    Journal of Clinical Endocrinology and Metabolism   104 ( 8 )   3213 - 3222   2019.6

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    DOI: 10.1210/jc.2018-01782

  • Early detection of cone photoreceptor cell loss in retinitis pigmentosa using adaptive optics scanning laser ophthalmoscopy. International journal

    Shunji Nakatake, Yusuke Murakami, Jun Funatsu, Yoshito Koyanagi, Masato Akiyama, Yukihide Momozawa, Tatsuro Ishibashi, Koh-Hei Sonoda, Yasuhiro Ikeda

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie   257 ( 6 )   1169 - 1181   2019.6

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    DOI: 10.1007/s00417-019-04307-0

  • A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. International journal

    Nature communications   10 ( 1 )   2884 - 2884   2019.6

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    DOI: 10.1038/s41467-019-10746-4

  • A catalog of genetic loci associated with kidney function from analyses of a million individuals. International journal

    Nature genetics   51 ( 6 )   957 - 972   2019.6

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    DOI: 10.1038/s41588-019-0407-x

  • GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture. International journal

    Nana Matoba, Masato Akiyama, Kazuyoshi Ishigaki, Masahiro Kanai, Atsushi Takahashi, Yukihide Momozawa, Shiro Ikegawa, Masashi Ikeda, Nakao Iwata, Makoto Hirata, Koichi Matsuda, Michiaki Kubo, Yukinori Okada, Yoichiro Kamatani

    Nature human behaviour   3 ( 5 )   471 - 477   2019.5

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    DOI: 10.1038/s41562-019-0557-y

  • Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. International journal

    Masahiro Nakatochi, Masahiro Kanai, Akiyoshi Nakayama, Asahi Hishida, Yusuke Kawamura, Sahoko Ichihara, Masato Akiyama, Hiroaki Ikezaki, Norihiro Furusyo, Seiko Shimizu, Ken Yamamoto, Makoto Hirata, Rieko Okada, Sayo Kawai, Makoto Kawaguchi, Yuichiro Nishida, Chisato Shimanoe, Rie Ibusuki, Toshiro Takezaki, Mayuko Nakajima, Mikiya Takao, Etsuko Ozaki, Daisuke Matsui, Takeshi Nishiyama, Sadao Suzuki, Naoyuki Takashima, Yoshikuni Kita, Kaori Endoh, Kiyonori Kuriki, Hirokazu Uemura, Kokichi Arisawa, Isao Oze, Keitaro Matsuo, Yohko Nakamura, Haruo Mikami, Takashi Tamura, Hiroshi Nakashima, Takahiro Nakamura, Norihiro Kato, Koichi Matsuda, Yoshinori Murakami, Tatsuaki Matsubara, Mariko Naito, Michiaki Kubo, Yoichiro Kamatani, Nariyoshi Shinomiya, Mitsuhiro Yokota, Kenji Wakai, Yukinori Okada, Hirotaka Matsuo

    Communications biology   2   115 - 115   2019.4

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    DOI: 10.1038/s42003-019-0339-0

  • Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population. International journal

    Jun Hirata, Kazuyoshi Hosomichi, Saori Sakaue, Masahiro Kanai, Hirofumi Nakaoka, Kazuyoshi Ishigaki, Ken Suzuki, Masato Akiyama, Toshihiro Kishikawa, Kotaro Ogawa, Tatsuo Masuda, Kenichi Yamamoto, Makoto Hirata, Koichi Matsuda, Yukihide Momozawa, Ituro Inoue, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

    Nature genetics   51 ( 3 )   470 - 480   2019.3

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    DOI: 10.1038/s41588-018-0336-0

  • Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population Reviewed

    Jun Hirata, Kazuyoshi Hosomichi, Saori Sakaue, Masahiro Kanai, Hirofumi Nakaoka, Kazuyoshi Ishigaki, Ken Suzuki, Masato Akiyama, Toshihiro Kishikawa, Kotaro Ogawa, Tatsuo Masuda, Kenichi Yamamoto, Makoto Hirata, Koichi Matsuda, Yukihide Momozawa, Ituro Inoue, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

    Nature genetics   51 ( 3 )   470 - 480   2019.3

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    DOI: 10.1038/s41588-018-0336-0

  • Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. International journal

    Ken Suzuki, Masato Akiyama, Kazuyoshi Ishigaki, Masahiro Kanai, Jun Hosoe, Nobuhiro Shojima, Atsushi Hozawa, Aya Kadota, Kiyonori Kuriki, Mariko Naito, Kozo Tanno, Yasushi Ishigaki, Makoto Hirata, Koichi Matsuda, Nakao Iwata, Masashi Ikeda, Norie Sawada, Taiki Yamaji, Motoki Iwasaki, Shiro Ikegawa, Shiro Maeda, Yoshinori Murakami, Kenji Wakai, Shoichiro Tsugane, Makoto Sasaki, Masayuki Yamamoto, Yukinori Okada, Michiaki Kubo, Yoichiro Kamatani, Momoko Horikoshi, Toshimasa Yamauchi, Takashi Kadowaki

    Nature genetics   51 ( 3 )   379 - 386   2019.3

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    DOI: 10.1038/s41588-018-0332-4

  • Direct comparison of retinal structure and function in retinitis pigmentosa by co-registering microperimetry and optical coherence tomography Reviewed

    Jun Funatsu, Yusuke Murakami, Shunji Nakatake, Masato Akiyama, Kohta Fujiwara, Shotaro Shimokawa, Takashi Tachibana, Toshio Hisatomi, Yoshito Koyanagi, Yukihide Momozawa, Koh Hei Sonoda, Yasuhiro Ikeda

    PloS one   14 ( 12 )   2019.1

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    DOI: 10.1371/journal.pone.0226097

  • Relationships between serum antioxidant and oxidant statuses and visual function in retinitis pigmentosa Reviewed

    Masataka Ishizu, Yusuke Murakami, Kohta Fujiwara, Jun Funatsu, Shotaro Shimokawa, Shunji Nakatake, Takashi Tachibana, Toshio Hisatomi, Yoshito Koyanagi, Masato Akiyama, Yukihide Momozawa, Tatsuro Ishibashi, Koh Hei Sonoda, Yasuhiro Ikeda

    Investigative Ophthalmology and Visual Science   60 ( 13 )   4462 - 4468   2019.1

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    DOI: 10.1167/iovs.19-26927

  • Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese Reviewed

    Yukinori Okada, Yukihide Momozawa, Saori Sakaue, Masahiro Kanai, Kazuyoshi Ishigaki, Masato Akiyama, Toshihiro Kishikawa, Yasumichi Arai, Takashi Sasaki, Kenjiro Kosaki, Makoto Suematsu, Koichi Matsuda, Kazuhiko Yamamoto, Michiaki Kubo, Nobuyoshi Hirose, Yoichiro Kamatani

    Nature communications   9 ( 1 )   2018.12

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    DOI: 10.1038/s41467-018-03274-0

  • Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity. International journal

    Saori Sakaue, Jun Hirata, Yuichi Maeda, Eiryo Kawakami, Takuro Nii, Toshihiro Kishikawa, Kazuyoshi Ishigaki, Chikashi Terao, Ken Suzuki, Masato Akiyama, Naomasa Suita, Tatsuo Masuda, Kotaro Ogawa, Kenichi Yamamoto, Yukihiko Saeki, Masato Matsushita, Maiko Yoshimura, Hidetoshi Matsuoka, Katsunori Ikari, Atsuo Taniguchi, Hisashi Yamanaka, Hideya Kawaji, Timo Lassmann, Masayoshi Itoh, Hiroyuki Yoshitomi, Hiromu Ito, Koichiro Ohmura, Alistair R R Forrest, Yoshihide Hayashizaki, Piero Carninci, Atsushi Kumanogoh, Yoichiro Kamatani, Michiel de Hoon, Kazuhiko Yamamoto, Yukinori Okada

    Nucleic acids research   46 ( 22 )   11898 - 11909   2018.12

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    DOI: 10.1093/nar/gky1066

  • Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation Reviewed

    Nature communications   9 ( 1 )   2018.12

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    DOI: 10.1038/s41467-018-06356-1

  • Amino acid position 37 of HLA-DR beta 1 affects susceptibility to Crohn's disease in Asians Reviewed International journal

    Han B*, Akiyama M*, Kim KK, Oh H, Choi H, Lee CH, Jung S, Lee HS, Kim EE, Cook S, Haritunians T, Yamazaki K, Park SH, Ye BD, McGovern DPB, Esaki M, Kawaguchi T, Khor SS, Taylor KD, Rotter JI, Suzuki Y, Matsui T, Motoya S, Bang SY, Kim TH, Momozawa Y, Kamatani Y, Tokunaga K, Kubo M, Okada Y, Yang SK, Song K.

    Human Molecular Genetics   27 ( 22 )   3901 - 3910   2018.11

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    DOI: 10.1093/hmg/ddy285

  • Interethnic analyses of blood pressure loci in populations of East Asian and European descent. International journal

    Fumihiko Takeuchi, Masato Akiyama, Nana Matoba, Tomohiro Katsuya, Masahiro Nakatochi, Yasuharu Tabara, Akira Narita, Woei-Yuh Saw, Sanghoon Moon, Cassandra N Spracklen, Jin-Fang Chai, Young-Jin Kim, Liang Zhang, Chaolong Wang, Huaixing Li, Honglan Li, Jer-Yuarn Wu, Rajkumar Dorajoo, Jovia L Nierenberg, Ya Xing Wang, Jing He, Derrick A Bennett, Atsushi Takahashi, Yukihide Momozawa, Makoto Hirata, Koichi Matsuda, Hiromi Rakugi, Eitaro Nakashima, Masato Isono, Matsuyuki Shirota, Atsushi Hozawa, Sahoko Ichihara, Tatsuaki Matsubara, Ken Yamamoto, Katsuhiko Kohara, Michiya Igase, Sohee Han, Penny Gordon-Larsen, Wei Huang, Nanette R Lee, Linda S Adair, Mi Yeong Hwang, Juyoung Lee, Miao Li Chee, Charumathi Sabanayagam, Wanting Zhao, Jianjun Liu, Dermot F Reilly, Liang Sun, Shaofeng Huo, Todd L Edwards, Jirong Long, Li-Ching Chang, Chien-Hsiun Chen, Jian-Min Yuan, Woon-Puay Koh, Yechiel Friedlander, Tanika N Kelly, Wen Bin Wei, Liang Xu, Hui Cai, Yong-Bing Xiang, Kuang Lin, Robert Clarke, Robin G Walters, Iona Y Millwood, Liming Li, John C Chambers, Jaspal S Kooner, Paul Elliott, Pim van der Harst, Zhengming Chen, Makoto Sasaki, Xiao-Ou Shu, Jost B Jonas, Jiang He, Chew-Kiat Heng, Yuan-Tsong Chen, Wei Zheng, Xu Lin, Yik-Ying Teo, E-Shyong Tai, Ching-Yu Cheng, Tien Yin Wong, Xueling Sim, Karen L Mohlke, Masayuki Yamamoto, Bong-Jo Kim, Tetsuro Miki, Toru Nabika, Mitsuhiro Yokota, Yoichiro Kamatani, Michiaki Kubo, Norihiro Kato

    Nature communications   9 ( 1 )   5052 - 5052   2018.11

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    DOI: 10.1038/s41467-018-07345-0

  • Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians. International journal

    27 ( 22 )   3901 - 3910   2018.11

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    Crohn's disease (CD) and ulcerative colitis (UC) are the major types of chronic inflammatory bowel disease (IBD) characterized by recurring episodes of inflammation of the gastrointestinal tract. Although it is well established that human leukocyte antigen (HLA) is a major risk factor for IBD, it is yet to be determined which HLA alleles or amino acids drive the risks of CD and UC in Asians. To define the roles of HLA for IBD in Asians, we fine-mapped HLA in 12 568 individuals from Korea and Japan (3294 patients with CD, 1522 patients with UC and 7752 controls). We identified that the amino acid position 37 of HLA-DRβ1 plays a key role in the susceptibility to CD (presence of serine being protective, P = 3.6 × 10-67, OR = 0.48 [0.45-0.52]). For UC, we confirmed the known association of the haplotype spanning HLA-C*12:02, HLA-B*52:01 and HLA-DRB1*1502 (P = 1.2 × 10-28, OR = 4.01 [3.14-5.12]).

    DOI: 10.1093/hmg/ddy285

  • Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. International journal

    Nature communications   9 ( 1 )   4455 - 4455   2018.10

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    DOI: 10.1038/s41467-018-06356-1

  • Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration Reviewed

    Masato Akiyama, Atsushi Takahashi, Yukihide Momozawa, Satoshi Arakawa, Fuyuki Miya, Tatsuhiko Tsunoda, Kyota Ashikawa, Yuji Oshima, Miho Yasuda, Shigeo Yoshida, Hiroshi Enaida, Xue Tan, Yasuo Yanagi, Tsutomu Yasukawa, Yuichiro Ogura, Yoshimi Nagai, Kanji Takahashi, Kimihiko Fujisawa, Maiko Inoue, Akira Arakawa, Koji Tanaka, Mitsuko Yuzawa, Kazuaki Kadonosono, Koh Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo

    Journal of Human Genetics   63 ( 10 )   1083 - 1091   2018.10

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    DOI: 10.1038/s10038-018-0493-0

  • Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. International journal

    Masato Akiyama, Atsushi Takahashi, Yukihide Momozawa, Satoshi Arakawa, Fuyuki Miya, Tatsuhiko Tsunoda, Kyota Ashikawa, Yuji Oshima, Miho Yasuda, Shigeo Yoshida, Hiroshi Enaida, Xue Tan, Yasuo Yanagi, Tsutomu Yasukawa, Yuichiro Ogura, Yoshimi Nagai, Kanji Takahashi, Kimihiko Fujisawa, Maiko Inoue, Akira Arakawa, Koji Tanaka, Mitsuko Yuzawa, Kazuaki Kadonosono, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo

    Journal of human genetics   63 ( 10 )   1083 - 1091   2018.10

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    DOI: 10.1038/s10038-018-0493-0

  • Genome-Wide Association Study of Renal Function Traits Results from the Japan Multi-Institutional Collaborative Cohort Study Reviewed

    Asahi Hishida, Masahiro Nakatochi, Masato Akiyama, Yoichiro Kamatani, Takeshi Nishiyama, Hidemi Ito, Isao Oze, Yuichiro Nishida, Megumi Hara, Naoyuki Takashima, Tanvir Chowdhury Turin, Miki Watanabe, Sadao Suzuki, Rie Ibusuki, Ippei Shimoshikiryo, Yohko Nakamura, Haruo Mikami, Hiroaki Ikezaki, Norihiro Furusyo, Kiyonori Kuriki, Kaori Endoh, Teruhide Koyama, Daisuke Matsui, Hirokazu Uemura, Kokichi Arisawa, Tae Sasakabe, Rieko Okada, Sayo Kawai, Mariko Naito, Yukihide Momozawa, Michiaki Kubo, Kenji Wakai

    American Journal of Nephrology   47 ( 5 )   304 - 316   2018.6

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    DOI: 10.1159/000488946

  • Elucidating the genetic architecture of reproductive ageing in the Japanese population Reviewed International journal

    Horikoshi M, Day F, Akiyama M, Hirata M, Kamatani Y, Matsuda K, Ishigaki K, Kanai M, Wright H, Toro CA, Ojeda SR, Lominiczi A, Kubo M, Ong KK, Perry JRB

    Nature Communications   9   2018.5

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    DOI: 10.1038/s41467-018-04398-z

  • Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study. International journal

    Asahi Hishida, Masahiro Nakatochi, Masato Akiyama, Yoichiro Kamatani, Takeshi Nishiyama, Hidemi Ito, Isao Oze, Yuichiro Nishida, Megumi Hara, Naoyuki Takashima, Tanvir Chowdhury Turin, Miki Watanabe, Sadao Suzuki, Rie Ibusuki, Ippei Shimoshikiryo, Yohko Nakamura, Haruo Mikami, Hiroaki Ikezaki, Norihiro Furusyo, Kiyonori Kuriki, Kaori Endoh, Teruhide Koyama, Daisuke Matsui, Hirokazu Uemura, Kokichi Arisawa, Tae Sasakabe, Rieko Okada, Sayo Kawai, Mariko Naito, Yukihide Momozawa, Michiaki Kubo, Kenji Wakai

    American journal of nephrology   47 ( 5 )   304 - 316   2018.5

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    DOI: 10.1159/000488946

  • Elucidating the genetic architecture of reproductive ageing in the Japanese population. International journal

    Momoko Horikoshi, Felix R Day, Masato Akiyama, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Kazuyoshi Ishigaki, Masahiro Kanai, Hollis Wright, Carlos A Toro, Sergio R Ojeda, Alejandro Lomniczi, Michiaki Kubo, Ken K Ong, John R B Perry

    Nature communications   9 ( 1 )   1977 - 1977   2018.5

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    DOI: 10.1038/s41467-018-04398-z

  • Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma Reviewed International journal

    Shiga Y*, Akiyama M*, Nishiguchi KM, Sato K, Shimozawa N, Takahashi A, Momozawa Y, Hirata M, Matsuda K, Yamaji T, Iwasaki M, Tsugane S, Oze I, Mikami H, Naito M, Wakai K, Yoshikawa M, Miyake M, Yamashiro K, Japan Glaucoma Society Omics Group: Kashiwagi K, Iwata T, Mabuchi F, Takamoto M, Ozaki M, Kawase K, Aihara M, Araie M, Yamamoto T, Kiuchi Y, Nakamura M, Ikeda Y, Sonoda KH, Ishibashi T, Nitta K, Iwase A, Shirato S, Oka Y, Satoh M, Sasaki M, Fuse N, Suzuki Y, Cheng CY, Khor CC, Baskaran M, Perera S, Aung T, Vithana EN, Cooke Bailey JN, Kang JH, Pasquale LR, Haines JL, NEIGHBORHOOD consortium, Wiggs JL, Burdon KP, Gharahkhani P, Hewitt AW, Mackey DA, MacGregor S, Craig JE, Allingham RR, Hauser M, Ashaye A, Budenz DL, Akafo S, Williams SE, Kamatani Y, Nakazawa T, Kubo M.

    Human Molecular Genetics   27 ( 8 )   1486 - 1496   2018.4

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    DOI: 10.1093/hmg/ddy053

  • Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. International journal

    Yukihiro Shiga, Masato Akiyama, Koji M Nishiguchi, Kota Sato, Nobuhiro Shimozawa, Atsushi Takahashi, Yukihide Momozawa, Makoto Hirata, Koichi Matsuda, Taiki Yamaji, Motoki Iwasaki, Shoichiro Tsugane, Isao Oze, Haruo Mikami, Mariko Naito, Kenji Wakai, Munemitsu Yoshikawa, Masahiro Miyake, Kenji Yamashiro, Kenji Kashiwagi, Takeshi Iwata, Fumihiko Mabuchi, Mitsuko Takamoto, Mineo Ozaki, Kazuhide Kawase, Makoto Aihara, Makoto Araie, Tetsuya Yamamoto, Yoshiaki Kiuchi, Makoto Nakamura, Yasuhiro Ikeda, Koh-Hei Sonoda, Tatsuro Ishibashi, Koji Nitta, Aiko Iwase, Shiroaki Shirato, Yoshitaka Oka, Mamoru Satoh, Makoto Sasaki, Nobuo Fuse, Yoichi Suzuki, Ching-Yu Cheng, Chiea Chuen Khor, Mani Baskaran, Shamira Perera, Tin Aung, Eranga N Vithana, Jessica N Cooke Bailey, Jae H Kang, Louis R Pasquale, Jonathan L Haines, Janey L Wiggs, Kathryn P Burdon, Puya Gharahkhani, Alex W Hewitt, David A Mackey, Stuart MacGregor, Jamie E Craig, R Rand Allingham, Micheal Hauser, Adeyinka Ashaye, Donald L Budenz, Stephan Akafo, Susan E I Williams, Yoichiro Kamatani, Toru Nakazawa, Michiaki Kubo

    Human molecular genetics   27 ( 8 )   1486 - 1496   2018.4

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    DOI: 10.1093/hmg/ddy053

  • Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese. International journal

    Yukinori Okada, Yukihide Momozawa, Saori Sakaue, Masahiro Kanai, Kazuyoshi Ishigaki, Masato Akiyama, Toshihiro Kishikawa, Yasumichi Arai, Takashi Sasaki, Kenjiro Kosaki, Makoto Suematsu, Koichi Matsuda, Kazuhiko Yamamoto, Michiaki Kubo, Nobuyoshi Hirose, Yoichiro Kamatani

    Nature communications   9 ( 1 )   1631 - 1631   2018.4

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    DOI: 10.1038/s41467-018-03274-0

  • A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder Reviewed

    M. Ikeda, A. Takahashi, Y. Kamatani, Y. Okahisa, H. Kunugi, N. Mori, T. Sasaki, T. Ohmori, Y. Okamoto, H. Kawasaki, S. Shimodera, T. Kato, H. Yoneda, R. Yoshimura, M. Iyo, K. Matsuda, M. Akiyama, K. Ashikawa, K. Kashiwase, K. Tokunaga, K. Kondo, T. Saito, A. Shimasaki, K. Kawase, T. Kitajima, K. Matsuo, M. Itokawa, T. Someya, T. Inada, R. Hashimoto, T. Inoue, K. Akiyama, H. Tanii, H. Arai, S. Kanba, N. Ozaki, I. Kusumi, T. Yoshikawa, M. Kubo, N. Iwata

    Molecular Psychiatry   23 ( 3 )   639 - 647   2018.3

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    DOI: 10.1038/mp.2016.259

  • Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. International journal

    Masahiro Kanai, Masato Akiyama, Atsushi Takahashi, Nana Matoba, Yukihide Momozawa, Masashi Ikeda, Nakao Iwata, Shiro Ikegawa, Makoto Hirata, Koichi Matsuda, Michiaki Kubo, Yukinori Okada, Yoichiro Kamatani

    Nature genetics   50 ( 3 )   390 - 400   2018.3

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    DOI: 10.1038/s41588-018-0047-6

  • Optical coherence tomography angiography of the macular microvasculature changes in retinitis pigmentosa Reviewed

    Yoshito Koyanagi, Yusuke Murakami, Jun Funatsu, Masato Akiyama, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Shintaro Nakao, Toshio Hisatomi, Shigeo Yoshida, Tatsuro Ishibashi, Koh Hei Sonoda, Yasuhiro Ikeda

    Acta Ophthalmologica   96 ( 1 )   e59 - e67   2018.2

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    DOI: 10.1111/aos.13475

  • Optical coherence tomography angiography of the macular microvasculature changes in retinitis pigmentosa. International journal

    Yoshito Koyanagi, Yusuke Murakami, Jun Funatsu, Masato Akiyama, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Shintaro Nakao, Toshio Hisatomi, Shigeo Yoshida, Tatsuro Ishibashi, Koh-Hei Sonoda, Yasuhiro Ikeda

    Acta ophthalmologica   96 ( 1 )   e59-e67   2018.2

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    DOI: 10.1111/aos.13475

  • Integration of genetics and miRNA–target gene network identified disease biology implicated in tissue specificity Reviewed

    46 ( 22 )   11898 - 11909   2018.1

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    MicroRNAs (miRNAs) modulate the post-transcriptional regulation of target genes and are related to biology of complex human traits, but genetic landscape of miRNAs remains largely unknown. Given the strikingly tissue-specific miRNA expression profiles, we here expand a previous method to quantitatively evaluate enrichment of genome-wide association study (GWAS) signals on miRNA–target gene networks (MIGWAS) to further estimate tissue-specific enrichment. Our approach integrates tissue-specific expression profiles of miRNAs (∼1800 miRNAs in 179 cells) with GWAS to test whether polygenic signals enrich in miRNA–target gene networks and whether they fall within specific tissues. We applied MIGWAS to 49 GWASs (n Total = 3 520 246), and successfully identified biologically relevant tissues. Further, MIGWAS could point miRNAs as candidate biomarkers of the trait. As an illustrative example, we performed differentially expressed miRNA analysis between rheumatoid arthritis (RA) patients and healthy controls (n = 63). We identified novel biomarker miRNAs (e.g. hsa-miR-762) by integrating differentially expressed miRNAs with MIGWAS results for RA, as well as novel associated loci with significant genetic risk (rs56656810 at MIR762 at 16q11; n = 91 482, P = 3.6 × 10 −8 ). Our result highlighted that miRNA–target gene network contributes to human disease genetics in a cell type-specific manner, which could yield an efficient screening of miRNAs as promising biomarkers.

    DOI: 10.1093/nar/gky1066

  • Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head Reviewed

    Yuma Sakamoto, Takuaki Yamamoto, Nobuhiko Sugano, Daisuke Takahashi, Toshiyuki Watanabe, Takashi Atsumi, Junichi Nakamura, Yukiharu Hasegawa, Koichi Akashi, Ichiei Narita, Takeshi Miyamoto, Tsutomu Takeuchi, Katsunori Ikari, Koichi Amano, Atsuhiro Fujie, Toshikazu Kubo, Yoshifumi Tada, Ayumi Kaneuji, Hiroaki Nakamura, Tomoya Miyamura, Tamon Kabata, Ken Yamaji, Takahiro Okawa, Akihiro Sudo, Kenji Ohzono, Yoshiya Tanaka, Yuji Yasunaga, Shuichi Matsuda, Yuuki Imai, Yasuharu Nakashima, Goro Motomura, Satoshi Ikemura, Ryosuke Yamaguchi, Kazuyuki Karasuyama, Kazuhiko Sonoda, Takashi Nishii, Takashi Sakai, Masaki Takao, Tohru Irie, Tsuyoshi Asano, Norimasa Iwasaki, Tatsuya Atsumi, Satoshi Tamaoki, Ryosuke Nakanishi, Satoe Tanabe, Shunji Kishida, Shigeo Hagiwara, Taisuke Seki, Hiroshi Tsukamoto, Hiroaki Niiro, Yojiro Arinobu, Mitsuteru Akahoshi, Hiroshi Mitoma, Masahiro Ayano, Takeshi Kuroda, Yoshiaki Toyama, Atsushi Funayama, Hironari Hanaoka, Kunihiro Yamaoka, Yasushi Kawaguchi, Hisashi Yamanaka, Tetsuji Hosozawa, Shigeki Momohara, Kentaro Chino, Mikihiro Fujioka, Keichiro Ueshima, Masashi Ishida, Masazumi Saito, Shigeki Hayashi, Akira Ikegami, Toru Ichiseki, Shigekazu Mizokawa, Yoichi Ohta, Yoshitomo Kajino, Fumio Sekiya, Fujio Higuchi, Masahiro Hasegawa, Noriki Miyamoto, Shinichi Miyazaki, Toshio Yamaguchi, Wataru Ando, Kazuyoshi Saito, Kazuhisa Nakano, Yutaka Kuroda, Takuma Yamasaki, Masato Akiyama, Michiaki Kubo, Yoichiro Kamatani, Yukihide Iwamoto, Shiro Ikegawa

    Scientific reports   7 ( 1 )   2017.12

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    DOI: 10.1038/s41598-017-14778-y

  • Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head. International journal

    Yuma Sakamoto, Takuaki Yamamoto, Nobuhiko Sugano, Daisuke Takahashi, Toshiyuki Watanabe, Takashi Atsumi, Junichi Nakamura, Yukiharu Hasegawa, Koichi Akashi, Ichiei Narita, Takeshi Miyamoto, Tsutomu Takeuchi, Katsunori Ikari, Koichi Amano, Atsuhiro Fujie, Toshikazu Kubo, Yoshifumi Tada, Ayumi Kaneuji, Hiroaki Nakamura, Tomoya Miyamura, Tamon Kabata, Ken Yamaji, Takahiro Okawa, Akihiro Sudo, Kenji Ohzono, Yoshiya Tanaka, Yuji Yasunaga, Shuichi Matsuda, Yuuki Imai, Masato Akiyama, Michiaki Kubo, Yoichiro Kamatani, Yukihide Iwamoto, Shiro Ikegawa

    Scientific reports   7 ( 1 )   15035 - 15035   2017.11

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    DOI: 10.1038/s41598-017-14778-y

  • Genome-wide association study of neovascular age-related macular degeneration in the Thai population Reviewed

    Paisan Ruamviboonsuk, Mongkol Tadarati, Panisa Singhanetr, Sukanya Wattanapokayakit, Punna Kunhapan, Thanyapat Wanitchanon, Nuanjun Wichukchinda, Taisei Mushiroda, Masato Akiyama, Yukihide Momozawa, Michiaki Kubo, Surakameth Mahasirimongkol

    Journal of Human Genetics   62 ( 11 )   957 - 962   2017.11

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    DOI: 10.1038/jhg.2017.72

  • Genome-wide association study of neovascular age-related macular degeneration in the Thai population. International journal

    Paisan Ruamviboonsuk, Mongkol Tadarati, Panisa Singhanetr, Sukanya Wattanapokayakit, Punna Kunhapan, Thanyapat Wanitchanon, Nuanjun Wichukchinda, Taisei Mushiroda, Masato Akiyama, Yukihide Momozawa, Michiaki Kubo, Surakameth Mahasirimongkol

    Journal of human genetics   62 ( 11 )   957 - 962   2017.11

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    DOI: 10.1038/jhg.2017.72

  • Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. International journal

    Masato Akiyama, Yukinori Okada, Masahiro Kanai, Atsushi Takahashi, Yukihide Momozawa, Masashi Ikeda, Nakao Iwata, Shiro Ikegawa, Makoto Hirata, Koichi Matsuda, Motoki Iwasaki, Taiki Yamaji, Norie Sawada, Tsuyoshi Hachiya, Kozo Tanno, Atsushi Shimizu, Atsushi Hozawa, Naoko Minegishi, Shoichiro Tsugane, Masayuki Yamamoto, Michiaki Kubo, Yoichiro Kamatani

    Nature genetics   49 ( 10 )   1458 - 1467   2017.10

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    DOI: 10.1038/ng.3951

  • Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population Invited Reviewed International journal

    Momozawa Y*, Akiyama M*, Kamatani Y, Arakawa S, Yasuda M, Yoshida S, Oshima T, Mori R, Tanaka K, Mori K, Inoue S, Terasaki H, Yasuma T, Honda S, Miki A, Inoue M, Fujisawa K, Takahashi K, Yasukawa T, Yanagi Y, Kadonosono K, Sonoda KH, Ishibashi T, Takahashi A, Kubo M

    Human Molecular Genetics   25 ( 22 )   5027 - 5034   2016.11

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    DOI: 10.1093/hmg/ddw335

  • Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population. International journal

    Yukihide Momozawa, Masato Akiyama, Yoichiro Kamatani, Satoshi Arakawa, Miho Yasuda, Shigeo Yoshida, Yuji Oshima, Ryusaburo Mori, Koji Tanaka, Keisuke Mori, Satoshi Inoue, Hiroko Terasaki, Tetsuhiro Yasuma, Shigeru Honda, Akiko Miki, Maiko Inoue, Kimihiko Fujisawa, Kanji Takahashi, Tsutomu Yasukawa, Yasuo Yanagi, Kazuaki Kadonosono, Koh-Hei Sonoda, Tatsuro Ishibashi, Atsushi Takahashi, Michiaki Kubo

    Human molecular genetics   25 ( 22 )   5027 - 5034   2016.11

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    DOI: 10.1093/hmg/ddw335

  • Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis. International journal

    Yukinori Okada, Akari Suzuki, Katsunori Ikari, Chikashi Terao, Yuta Kochi, Koichiro Ohmura, Koichiro Higasa, Masato Akiyama, Kyota Ashikawa, Masahiro Kanai, Jun Hirata, Naomasa Suita, Yik-Ying Teo, Huji Xu, Sang-Cheol Bae, Atsushi Takahashi, Yukihide Momozawa, Koichi Matsuda, Shigeki Momohara, Atsuo Taniguchi, Ryo Yamada, Tsuneyo Mimori, Michiaki Kubo, Matthew A Brown, Soumya Raychaudhuri, Fumihiko Matsuda, Hisashi Yamanaka, Yoichiro Kamatani, Kazuhiko Yamamoto

    American journal of human genetics   99 ( 2 )   366 - 74   2016.8

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    DOI: 10.1016/j.ajhg.2016.06.019

  • Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis Reviewed

    Yukinori Okada, Akari Suzuki, Katsunori Ikari, Chikashi Terao, Yuta Kochi, Koichiro Ohmura, Koichiro Higasa, Masato Akiyama, Kyota Ashikawa, Masahiro Kanai, Jun Hirata, Naomasa Suita, Yik Ying Teo, Huji Xu, Sang Cheol Bae, Atsushi Takahashi, Yukihide Momozawa, Koichi Matsuda, Shigeki Momohara, Atsuo Taniguchi, Ryo Yamada, Tsuneyo Mimori, Michiaki Kubo, Matthew A. Brown, Soumya Raychaudhuri, Fumihiko Matsuda, Hisashi Yamanaka, Yoichiro Kamatani, Kazuhiko Yamamoto

    American journal of human genetics   99 ( 2 )   366 - 374   2016.8

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    DOI: 10.1016/j.ajhg.2016.06.019

  • Correlation between macular blood flow and central visual sensitivity in retinitis pigmentosa. International journal

    Yusuke Murakami, Yasuhiro Ikeda, Masato Akiyama, Kota Fujiwara, Noriko Yoshida, Shunji Nakatake, Shoji Notomi, Takahiro Nabeshima, Toshio Hisatomi, Hiroshi Enaida, Tatsuro Ishibashi

    Acta ophthalmologica   93 ( 8 )   e644-8   2015.12

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    DOI: 10.1111/aos.12693

  • Correlation between macular blood flow and central visual sensitivity in retinitis pigmentosa Reviewed

    Yusuke Murakami, Yasuhiro Ikeda, Masato Akiyama, Kota Fujiwara, Noriko Yoshida, Shunji Nakatake, Shoji Notomi, Takahiro Nabeshima, Toshio Hisatomi, Hiroshi Enaida, Tatsuro Ishibashi

    Acta Ophthalmologica   93 ( 8 )   e644 - e648   2015.12

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/aos.12693

  • Therapeutic efficacy of topical unoprostone isopropyl in retinitis pigmentosa. International journal

    Masato Akiyama, Yasuhiro Ikeda, Noriko Yoshida, Shoji Notomi, Yusuke Murakami, Toshio Hisatomi, Hiroshi Enaida, Tatsuro Ishibashi

    Acta ophthalmologica   92 ( 3 )   e229-34   2014.5

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    Language:English   Publishing type:Research paper (scientific journal)  

  • Therapeutic efficacy of topical unoprostone isopropyl in retinitis pigmentosa Reviewed

    Masato Akiyama, Yasuhiro Ikeda, Noriko Yoshida, Shoji Notomi, Yusuke Murakami, Toshio Hisatomi, Hiroshi Enaida, Tatsuro Ishibashi

    Acta Ophthalmologica   92 ( 3 )   e229 - e234   2014.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/aos.12293

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MISC

  • Multi-omics study for interpretation of genome-wide association study. Reviewed

    Akiyama M

    J. Hum. Genet.   2021.1

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    Language:English   Publishing type:Article, review, commentary, editorial, etc. (scientific journal)  

    DOI: 10.1038/s10038-020-00842-5

Professional Memberships

  • 日本眼科AI学会 評議員

  • 日本眼科学会

  • 日本緑内障学会

  • 日本人類遺伝学会

  • 日本眼腫瘍学会

  • 日本網膜硝子体学会

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Committee Memberships

  • 日本眼科学会オンライン診療検討委員会   委員  

    2021.2 - Present   

  • Councilor  

    2020.4 - Present   

  • 日本眼科学会ゲノム研究委員会   委員  

    2019.11 - Present   

  • 日本眼科学会戦略企画会議 第五委員会   委員  

    2018.1 - 2022.12   

Academic Activities

  • シンポジスト

    第128回 日本眼科学会総会  ( 東京 ) 2024.4

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    Type:Competition, symposium, etc. 

  • シンポジスト International contribution

    2023.12

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    Type:Competition, symposium, etc. 

  • Human Genome Variation

    2023.10 - Present

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    Type:Academic society, research group, etc. 

  • シンポジスト

    日本緑内障学会  ( 東京 ) 2023.9

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    Type:Competition, symposium, etc. 

  • シンポジスト

    第127回 日本眼科学会総会  ( 東京 ) 2023.4

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    Type:Competition, symposium, etc. 

  • Screening of academic papers

    Role(s): Peer review

    2023

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    Type:Peer review 

    Number of peer-reviewed articles in foreign language journals:9

    Number of peer-reviewed articles in Japanese journals:0

    Proceedings of International Conference Number of peer-reviewed papers:0

    Proceedings of domestic conference Number of peer-reviewed papers:0

  • シンポジスト

    日本網膜硝子体学会総会  ( 大阪 ) 2022.12

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    Type:Competition, symposium, etc. 

  • シンポジスト

    日本眼腫瘍学会  ( 東京 ) 2022.9

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    Type:Competition, symposium, etc. 

  • シンポジスト

    日本緑内障学会  ( 東京 ) 2022.9

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    Type:Competition, symposium, etc. 

  • シンポジスト

    第126回 日本眼科学会総会  ( 大阪 ) 2022.4

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    Type:Competition, symposium, etc. 

  • Screening of academic papers

    Role(s): Peer review

    2022

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    Type:Peer review 

    Number of peer-reviewed articles in foreign language journals:11

    Number of peer-reviewed articles in Japanese journals:0

    Proceedings of International Conference Number of peer-reviewed papers:0

    Proceedings of domestic conference Number of peer-reviewed papers:0

  • シンポジスト

    第125回 日本眼科学会総会  ( 大阪(オンライン講演) ) 2021.4

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    Type:Competition, symposium, etc. 

  • シンポジスト

    第32回 日本眼瞼義眼床手術学会  2021.2

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    Type:Competition, symposium, etc. 

  • Screening of academic papers

    Role(s): Peer review

    2021

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    Type:Peer review 

    Number of peer-reviewed articles in foreign language journals:8

    Number of peer-reviewed articles in Japanese journals:0

    Proceedings of International Conference Number of peer-reviewed papers:0

    Proceedings of domestic conference Number of peer-reviewed papers:0

  • Screening of academic papers

    Role(s): Peer review

    2020

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    Type:Peer review 

    Number of peer-reviewed articles in foreign language journals:7

    Number of peer-reviewed articles in Japanese journals:0

    Proceedings of International Conference Number of peer-reviewed papers:0

    Proceedings of domestic conference Number of peer-reviewed papers:0

  • シンポジスト

    日本人類遺伝学会 第64回大会  ( 長崎 ) 2019.11

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    Type:Competition, symposium, etc. 

  • シンポジスト

    第92回 日本生化学会大会  2019.9

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    Type:Competition, symposium, etc. 

  • シンポジスト

    第69回 日本体質医学会総会  2019.8 - 2019.9

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    Type:Competition, symposium, etc. 

  • Screening of academic papers

    Role(s): Peer review

    2019

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    Type:Peer review 

    Number of peer-reviewed articles in foreign language journals:6

    Number of peer-reviewed articles in Japanese journals:0

    Proceedings of International Conference Number of peer-reviewed papers:0

    Proceedings of domestic conference Number of peer-reviewed papers:0

  • Journal of Human Genetics

    2018.9 - Present

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    Type:Academic society, research group, etc. 

  • シンポジスト

    第122回 日本眼科学会総会  2018.4

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    Type:Competition, symposium, etc. 

  • Screening of academic papers

    Role(s): Peer review

    2018

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    Type:Peer review 

    Number of peer-reviewed articles in foreign language journals:4

    Number of peer-reviewed articles in Japanese journals:0

    Proceedings of International Conference Number of peer-reviewed papers:0

    Proceedings of domestic conference Number of peer-reviewed papers:0

  • シンポジスト

    日本人類遺伝学会 第62回大会  2017.11

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    Type:Competition, symposium, etc. 

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Research Projects

  • 日本人の眼瞼基底細胞癌の網羅的ゲノム解析で明らかにする既存薬物の有効性

    Grant number:21K16898  2021 - 2022

    日本学術振興会  科学研究費助成事業  若手研究

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    Authorship:Principal investigator  Grant type:Scientific research funding

  • 失明回避を目指す開放隅角緑内障の遺伝的リスク予測に関する研究開発

    Grant number:19km0405212h0001  2019 - 2024

    科学研究費助成事業  日本医療研究開発機構(AMED) ゲノム医療実現推進プラットフォーム事業 先端ゲノム研究開発

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    Authorship:Principal investigator  Grant type:Competitive funding other than Grants-in-Aid for Scientific Research

  • エクソームシークエンスによる脂腺癌の発癌メカニズム解明

    2018 - 2020

    日本学術振興会  科学研究費助成事業  若手研究

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    Authorship:Principal investigator  Grant type:Scientific research funding

Specialized clinical area

  • Biology / Medicine, Dentistry and Pharmacy / Surgical Clinical Medicine / Ophthalmology

Year of medical license acquisition

  • 2008