Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

dc.contributor.author MacGregor, Stuart
dc.contributor.author Ong, Jue Sheng
dc.contributor.author An, Jiyuan
dc.contributor.author Han, Xikun
dc.contributor.author Zhou, Tiger
dc.contributor.author Siggs, Owen M
dc.contributor.author Law, Matthew H
dc.contributor.author Souzeau, Emmanuelle
dc.contributor.author Sharma, Shiwani
dc.contributor.author Lynn, David J
dc.contributor.author Beesley, Jonathan
dc.contributor.author Sheldrick, Bronwyn
dc.contributor.author Mills, Richard Arthur
dc.contributor.author Landers, John
dc.contributor.author Ruddle, Jonathan B
dc.contributor.author Graham, Stuart L
dc.contributor.author Healey, Paul R
dc.contributor.author White, Andrew J
dc.contributor.author Casson, Robert J
dc.contributor.author Best, Stephen
dc.contributor.author Grigg, John RB
dc.contributor.author Goldberg, Ivan
dc.contributor.author Powell, Joseph E
dc.contributor.author Whiteman, David C
dc.contributor.author Smith, Graham
dc.contributor.author Martin, Nicholas G
dc.contributor.author Montgomery, Grant W
dc.contributor.author Burdon, Kathryn Penelope
dc.contributor.author Mackey, David A
dc.contributor.author Gharahkhani, Puya
dc.contributor.author Craig, Jamie E
dc.contributor.author Hewitt, Alex W
dc.date.accessioned 2018-08-24T00:47:22Z
dc.date.available 2018-08-24T00:47:22Z
dc.date.issued 2018-07-27
dc.description This article has been archived in accordance with the publisher's policy. © 2018 Springer Nature Limited. This author accepted manuscript is made available following 6 month embargo from date of publication (July 2018) in accordance with the publisher’s copyright policy en_US
dc.description.abstract Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG are highly heritable. We report a combined analysis of participants from the UK Biobank (n = 103,914) and previously published data from the International Glaucoma Genetic Consortium (n = 29,578) that identified 101 statistically independent genome-wide-significant SNPs for IOP, 85 of which have not been previously reported. We examined these SNPs in 11,018 glaucoma cases and 126,069 controls, and 53 SNPs showed evidence of association. Gene-based tests implicated an additional 22 independent genes associated with IOP. We derived an allele score based on the IOP loci and loci influencing optic nerve head morphology. In 1,734 people with advanced glaucoma and 2,938 controls, participants in the top decile of the allele score were at increased risk (odds ratio (OR) = 5.6; 95% confidence interval (CI): 4.1–7.6) of glaucoma relative to the bottom decile. en_US
dc.identifier.citation MacGregor, S., Ong, J.-S., An, J., Han, X., Zhou, T., Siggs, O. M., … Hewitt, A. W. (2018). Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nature Genetics, 50(8), 1067–1071. https://doi.org/10.1038/s41588-018-0176-y en_US
dc.identifier.doi https://doi.org/10.1038/s41588-018-0176-y en
dc.identifier.issn 1546-1718
dc.identifier.uri http://hdl.handle.net/2328/38216
dc.language.iso en en_US
dc.publisher Springer Nature en_US
dc.relation http://purl.org/au-research/grants/nhmrc/1107098 en_US
dc.relation http://purl.org/au-research/grants/nhmrc/1116360 en_US
dc.relation http://purl.org/au-research/grants/nhmrc/1116495 en_US
dc.relation http://purl.org/au-research/grants/nhmrc/1023911 en_US
dc.relation.grantnumber nhmrc/1107098 en_US
dc.relation.grantnumber nhmrc/1116360 en_US
dc.relation.grantnumber nhmrc/1116495 en_US
dc.relation.grantnumber nhmrc/1023911 en_US
dc.rights © 2018 Springer Nature Limited. en_US
dc.rights.holder Springer Nature Limited. en_US
dc.rights.license In Copyright
dc.subject Intraocular pressure (IOP) en_US
dc.subject glaucoma en_US
dc.subject primary open-angle glaucoma (POAG) en_US
dc.subject blindness en_US
dc.subject International Glaucoma Genetic Consortium en_US
dc.subject Gene-based tests en_US
dc.title Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma en_US
dc.type Article en
local.contributor.authorOrcidLookup Siggs, Owen M: https://orcid.org/0000-0003-2840-4851 en_US
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