Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Gharahkhani, Puya Jorgenson, Eric Hysi, Pirro Khawaja, Anthony P. Pendergrass, Sarah Han, Xikun Ong, Jue Sheng Hewitt, Alex W. Segrè, A.V. Rouhana, John M.
Gharahkhani, Puya
Jorgenson, Eric
Hysi, Pirro
Khawaja, Anthony P.
Pendergrass, Sarah
Han, Xikun
Ong, Jue Sheng
Hewitt, Alex W.
Segrè, A.V.
Rouhana, John M.
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Abstract
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. © 2021, The Author(s).
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Source Title
Nature Communications
Publisher
Nature Research
Series/Report No.
Collections
Rights
Attribution 4.0 International
Date
2021-02-24
DOI
10.1038/s41467-020-20851-4
Type
Article