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

Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W Hewitt, Ayellet V Segrè, John M Rouhana, Andrew R Hamel, Robert P Igo, Helene Choquet, Ayub Qassim, Navya S Josyula, Jessica N Cooke Bailey, Pieter W M Bonnemaijer, Adriana Iglesias, Owen M Siggs, Terri L YoungVeronique Vitart, Alberta A H J Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B Melles, K Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, , Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K Lupton, Nicholas G Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E Williams, Stephen Akafo

    Research output: Contribution to journalArticleResearchpeer-review


    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
    Pages (from-to)1258
    JournalNature Communications
    Issue number1
    Publication statusPublished - 24 Feb 2021


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