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

NEIGHBORHOOD Consortium, ANZRAG Consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Ayub Qassim, Owen M. Siggs, Shiwani Sharma, Sarah Martin, Tiger Zhou, Emmanuelle Souzeau, John Landers, Jude T. Fitzgerald, Richard A. Mills, Jamie Craig, Kathryn Burdon, Jamie E. Craig

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    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.

    Original languageEnglish
    Article number1258
    Number of pages16
    JournalNature Communications
    Issue number1
    Publication statusPublished - 24 Feb 2021


    • Primary open-angle glaucoma (POAG)
    • blindness


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