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

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dc.contributor.authorGharahkhani, P.
dc.contributor.authorJorgenson, E.
dc.contributor.authorHysi, P.
dc.contributor.authorKhawaja, A.P.
dc.contributor.authorPendergrass, S.
dc.contributor.authorHan, X.
dc.contributor.authorOng, J.S.
dc.contributor.authorHewitt, A.W.
dc.contributor.authorSegrè, A.V.
dc.contributor.authorRouhana, J.M.
dc.contributor.authorHamel, A.R.
dc.contributor.authorIgo, R.P.
dc.contributor.authorChoquet, H.
dc.contributor.authorQassim, A.
dc.contributor.authorJosyula, N.S.
dc.contributor.authorCooke Bailey, J.N.
dc.contributor.authorBonnemaijer, P.W.M.
dc.contributor.authorIglesias, A.
dc.contributor.authorSiggs, O.M.
dc.contributor.authorYoung, T.L.
dc.contributor.authoret al.
dc.date.issued2021
dc.descriptionPublished online: 24 February 2021
dc.description.abstractPrimary 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.
dc.description.statementofresponsibilityPuya Gharahkhani ... Robert J. Casson (ANZRAG consortium) ... et al.
dc.identifier.citationNature Communications, 2021; 12(1):1258-1-1258-16
dc.identifier.doi10.1038/s41467-020-20851-4
dc.identifier.issn2041-1723
dc.identifier.issn2041-1723
dc.identifier.orcidCasson, R.J. [0000-0003-2822-4076]
dc.identifier.urihttps://hdl.handle.net/2440/133337
dc.language.isoen
dc.publisherSpringer Nature
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1107098
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1116360
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1116495
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1023911
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1173390
dc.rights© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/.
dc.source.urihttps://doi.org/10.1038/s41467-020-20851-4
dc.subjectPolymorphism, Single Nucleotide
dc.titleGenome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
dc.typeJournal article
pubs.publication-statusPublished

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