期刊
NATURE COMMUNICATIONS
卷 12, 期 1, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41467-020-20851-4
关键词
-
资金
- National Health and Medical Research Council (NHMRC) of Australia [1107098, 1116360, 1116495, 1023911]
- Ophthalmic Research Institute of Australia
- BrightFocus Foundation, UK
- Eire Glaucoma Society
- Charitable Funds from Royal Liverpool University Hospital
- International Glaucoma Association-Royal College of Ophthalmologists
- NHMRC [1173390]
- Moorfields Eye Charity Career Development Fellowship
- UK Research and Innovation Future Leaders Fellowship
- Alcon Research Institute Young Investigator Award
- Medical Research Council [MR/N003284/1, MC-UU_12015/1, MC_PC_13048]
- Cancer Research UK [C864/A14136]
- NIH [P30 EY014104, R01 EY015473, R01 EY022305]
- Business Finland [HUS 4685/31/2016, UH 4386/31/2016]
- AbbVie Inc
- AstraZeneca UK Ltd
- Biogen MA Inc
- Celgene Corporation
- Celgene International II Sarl
- Genentech Inc
- Merck Sharp Dohme Corp
- Pfizer Inc.
- GlaxoSmithKline
- Sanofi
- Maze Therapeutics Inc.
- Janssen Biotech Inc
- National Eye Institute/National Institutes of Health [R01EY018246]
- National Eye Institute/National Institutes of Health [National Institutes of Health Center for Inherited Disease Research]
- University of Wisconsin Centennial Scholars Award
- Research to Prevent Blindness, Inc.
- UKRI [MR/T040912/1] Funding Source: UKRI
- National Health and Medical Research Council of Australia [1107098, 1173390] Funding Source: NHMRC
The authors conducted a meta-analysis of genome-wide association studies in 34,179 cases of POAG, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities. Integration of multiple lines of genetic evidence supports the functional relevance of the identified POAG risk loci.
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates. Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据