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A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.
Tuesday,2025-04-08 14:43 America/Los_Angeles — ecterry
| Title | A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. |
| Publication Type | Journal Article |
| Year of Publication | 2024 |
| Authors | Verma, SS, Gudiseva, HV, Chavali, VRM, Salowe, RJ, Bradford, Y, Guare, L, Lucas, A, Collins, DW, Vrathasha, V, Nair, RM, Rathi, S, Zhao, B, He, J, Lee, R, Zenebe-Gete, S, Bowman, AS, McHugh, CP, Zody, MC, Pistilli, M, Khachatryan, N, Daniel, E, Murphy, W, Henderer, J, Kinzy, TG, Iyengar, SK, Peachey, NS, Taylor, KD, Guo, X, Chen, Y-DI, Zangwill, L, Girkin, C, Ayyagari, R, Liebmann, J, Chuka-Okosa, CM, Williams, SE, Akafo, S, Budenz, DL, Olawoye, OO, Ramsay, M, Ashaye, A, Akpa, OM, Aung, T, Wiggs, JL, Ross, AG, Cui, QN, Addis, V, Lehman, A, Miller-Ellis, E, Sankar, PS, Williams, SM, Ying, G-S, Bailey, JCooke, Rotter, JI, Weinreb, R, Khor, CChuen, Hauser, MA, Ritchie, MD, O'Brien, JM |
| Corporate/Institutional Authors | Regeneron Genetics Center, VA Million Veteran Program |
| Journal | Cell |
| Volume | 187 |
| Issue | 2 |
| Pagination | 464-480.e10 |
| Date Published | 2024 Jan 18 |
| ISSN | 1097-4172 |
| Keywords | Black People, Genetic Predisposition to Disease, Genome-Wide Association Study, Glaucoma, Open-Angle, Humans, Polymorphism, Single Nucleotide |
| Abstract | <p>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.</p> |
| DOI | 10.1016/j.cell.2023.12.006 |
| Alternate Journal | Cell |
| PubMed ID | 38242088 |
| PubMed Central ID | PMC11844349 |
| Grant List | P30 EY011373 / EY / NEI NIH HHS / United States R01 EY011008 / EY / NEI NIH HHS / United States UL1 TR001878 / TR / NCATS NIH HHS / United States R01 EY034115 / EY / NEI NIH HHS / United States R01 EY019869 / EY / NEI NIH HHS / United States P30 DK063491 / DK / NIDDK NIH HHS / United States I01 BX004557 / BX / BLRD VA / United States R01 EY023557 / EY / NEI NIH HHS / United States UL1 TR001881 / TR / NCATS NIH HHS / United States R01 EY023704 / EY / NEI NIH HHS / United States U54 HG009826 / HG / NHGRI NIH HHS / United States P30 EY022589 / EY / NEI NIH HHS / United States T32 EY026590 / EY / NEI NIH HHS / United States R01 HL105756 / HL / NHLBI NIH HHS / United States R01 EY033829 / EY / NEI NIH HHS / United States R01 EY021818 / EY / NEI NIH HHS / United States P30 EY025585 / EY / NEI NIH HHS / United States P30 EY001583 / EY / NEI NIH HHS / United States IK6 BX005233 / BX / BLRD VA / United States |
ePub date:
24/01