A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma
Copyright © 2023 Elsevier Inc. All rights reserved..
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.
| Errataetall: |
CommentIn: Cell. 2024 Jan 18;187(2):273-275. - PMID 38242084 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:187 |
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| Enthalten in: |
Cell - 187(2024), 2 vom: 18. Jan., Seite 464-480.e10 |
| Sprache: |
Englisch |
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| Anmerkungen: |
Date Completed 22.01.2024 Date Revised 25.01.2024 published: Print CommentIn: Cell. 2024 Jan 18;187(2):273-275. - PMID 38242084 Citation Status MEDLINE |
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| doi: |
10.1016/j.cell.2023.12.006 |
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| PPN (Katalog-ID): |
NLM367325799 |
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| 245 | 1 | 2 | |a A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma |
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| 500 | |a CommentIn: Cell. 2024 Jan 18;187(2):273-275. - PMID 38242084 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 Elsevier Inc. All rights reserved. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a African ancestry | |
| 650 | 4 | |a Black | |
| 650 | 4 | |a genetic risk factors | |
| 650 | 4 | |a genome-wide association study | |
| 650 | 4 | |a glaucoma | |
| 650 | 4 | |a health disparities | |
| 650 | 4 | |a neurodegeneration | |
| 650 | 4 | |a ophthalmology | |
| 650 | 4 | |a optic nerve | |
| 650 | 4 | |a primary open-angle glaucoma | |
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