Shefali S Verma, Harini V Gudiseva, Venkata R M Chavali, Rebecca J Salowe, Yuki Bradford, Lindsay Guare, Anastasia Lucas, David W Collins, Vrathasha Vrathasha, Rohini M Nair, Sonika Rathi, Bingxin Zhao, Jie He, Roy Lee, Selam Zenebe-Gete, Anita S Bowman, Caitlin P McHugh, Michael C Zody, Maxwell Pistilli, Naira Khachatryan, Ebenezer Daniel, Windell Murphy, Jeffrey Henderer, Tyler G Kinzy, Sudha K Iyengar, Neal S Peachey, Kent D Taylor, Xiuqing Guo, Yii-Der Ida Chen, Linda Zangwill, Christopher Girkin, Radha Ayyagari, Jeffrey Liebmann, Chimd M Chuka-Okosa, Susan E Williams, Stephen Akafo, Donald L Budenz, Olusola O Olawoye, Michele Ramsay, Adeyinka Ashaye, Onoja M Akpa, Tin Aung, Janey L Wiggs, Ahmara G Ross, Qi N Cui, Victoria Addis, Amanda Lehman, Eydie Miller-Ellis, Prithvi S Sankar, Scott M Williams, Gui-Shuang Ying, Jessica Cooke Bailey, Jerome I Rotter, Robert Weinreb, Chiea Chuen Khor, Michael A Hauser, Marylyn D Ritchie, Joan M O'Brien
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...
January 18, 2024: Cell