Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.



Gharahkhani, Puya ORCID: 0000-0002-4203-5952, Jorgenson, Eric ORCID: 0000-0002-5829-8191, Hysi, Pirro ORCID: 0000-0001-5752-2510, Khawaja, Anthony P ORCID: 0000-0001-6802-8585, Pendergrass, Sarah, Han, Xikun ORCID: 0000-0002-3823-7308, Ong, Jue Sheng ORCID: 0000-0002-6062-710X, Hewitt, Alex W ORCID: 0000-0002-5123-5999, Segrè, Ayellet V, Rouhana, John M ORCID: 0000-0002-8599-0271
et al (show 76 more authors) (2021) Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nature communications, 12 (1). 1258 - ?.

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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.

Item Type: Article
Uncontrolled Keywords: NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Genotype, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci, Asians, Whites
Divisions: Faculty of Health and Life Sciences
Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences
Depositing User: Symplectic Admin
Date Deposited: 30 Jun 2021 10:10
Last Modified: 16 Jan 2022 01:11
DOI: 10.1038/s41467-020-20851-4
Open Access URL: http://doi.org/10.1038/s41467-020-20851-4
URI: https://livrepository.liverpool.ac.uk/id/eprint/3128248