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DOI 10.1016/j.cell.2023.12.006

Медицинская библиотека · Cell · 2024

A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.

Verma Shefali S, Gudiseva Harini V, Chavali Venkata R M, Salowe Rebecca J, Bradford Yuki, Guare Lindsay, Lucas Anastasia, Collins David W, Vrathasha Vrathasha, Nair Rohini M, Rathi Sonika, Zhao Bingxin, He Jie, Lee Roy, Zenebe-Gete Selam, Bowman Anita S, McHugh Caitlin P, Zody Michael C, Pistilli Maxwell, Khachatryan Naira, Daniel Ebenezer, Murphy Windell, Henderer Jeffrey, Regeneron Genetics Center, Kinzy Tyler G, Iyengar Sudha K, Peachey Neal S, VA Million Veteran Program, Taylor Kent D, Guo Xiuqing, Chen Yii-Der Ida, Zangwill Linda, Girkin Christopher, Ayyagari Radha, Liebmann Jeffrey, Chuka-Okosa Chimd M, Williams Susan E, Akafo Stephen, Budenz Donald L, Olawoye Olusola O, Ramsay Michele, Ashaye Adeyinka, Akpa Onoja M, Aung Tin, Wiggs Janey L, Ross Ahmara G, Cui Qi N, Addis Victoria, Lehman Amanda, Miller-Ellis Eydie, Sankar Prithvi S, Williams Scott M, Ying Gui-Shuang, Cooke Bailey Jessica, Rotter Jerome I, Weinreb Robert, Khor Chiea Chuen, Hauser Michael A, Ritchie Marylyn D, O'Brien Joan M

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness worldwide, disproportionately affects individuals of African ancestry. We conducted a genome-wide association study (GWAS) for POAG in 11,275 individuals of African ancestry (6,003 cases; 5,272 controls). We detected 46 risk loci associated with POAG at genome-wide significance. Replication and post-GWAS analyses, including functionally informed fine-mapping, multiple trait co-localization, and in silico validation, implicated two previously undescribed variants (rs1666698 mapping to DBF4P2; rs34957764 mapping to ROCK1P1) and one previously associated variant (rs11824032 mapping to ARHGEF12) as likely causal. For individuals of African ancestry, a polygenic risk score (PRS) for POAG from our mega-analysis (African ancestry individuals) outperformed a PRS from summary statistics of a much larger GWAS derived from European ancestry individuals. This study quantifies the genetic architecture similarities and differences between African and non-African ancestry populations for this blinding disease.

Для цитирования: Verma Shefali S, Gudiseva Harini V, Chavali Venkata R M, Salowe Rebecca J, Bradford Yuki, Guare Lindsay, Lucas Anastasia, Collins David W, Vrathasha Vrathasha, Nair Rohini M, Rathi Sonika, Zhao Bingxin, He Jie, Lee Roy, Zenebe-Gete Selam, Bowman Anita S, McHugh Caitlin P, Zody Michael C, Pistilli Maxwell, Khachatryan Naira, Daniel Ebenezer, Murphy Windell, Henderer Jeffrey, Regeneron Genetics Center, Kinzy Tyler G, Iyengar Sudha K, Peachey Neal S, VA Million Veteran Program, Taylor Kent D, Guo Xiuqing, Chen Yii-Der Ida, Zangwill Linda, Girkin Christopher, Ayyagari Radha, Liebmann Jeffrey, Chuka-Okosa Chimd M, Williams Susan E, Akafo Stephen, Budenz Donald L, Olawoye Olusola O, Ramsay Michele, Ashaye Adeyinka, Akpa Onoja M, Aung Tin, Wiggs Janey L, Ross Ahmara G, Cui Qi N, Addis Victoria, Lehman Amanda, Miller-Ellis Eydie, Sankar Prithvi S, Williams Scott M, Ying Gui-Shuang, Cooke Bailey Jessica, Rotter Jerome I, Weinreb Robert, Khor Chiea Chuen, Hauser Michael A, Ritchie Marylyn D, O'Brien Joan M. A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.. Cell. 2024. DOI: 10.1016/j.cell.2023.12.006.

Предметные рубрики MeSH

HumansGenome-Wide Association StudyGenetic Predisposition to DiseaseGlaucoma, Open-AngleBlack PeoplePolymorphism, Single Nucleotide
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