Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/115594
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Type: Journal article
Title: Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
Author: MacGregor, S.
Ong, J.
An, J.
Han, X.
Zhou, T.
Siggs, O.
Law, M.
Souzeau, E.
Sharma, S.
Lynn, D.
Beesley, J.
Sheldrick, B.
Mills, R.
Landers, J.
Ruddle, J.
Graham, S.
Healey, P.
White, A.
Casson, R.
Best, S.
et al.
Citation: Nature Genetics, 2018; 50(8):1067-1071
Publisher: Nature Publishing Group
Issue Date: 2018
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Stuart MacGregor, Jue-Sheng Ong, Jiyuan An, Xikun Han, Tiger Zhou, Owen M. Siggs, Matthew H. Law, Emmanuelle Souzeau, Shiwani Sharma, David J. Lynn, Jonathan Beesley, Bronwyn Sheldrick, Richard A. Mills, John Landers, Jonathan B. Ruddle, Stuart L. Graham, Paul R. Healey, Andrew J. R. White, Robert J. Casson, Stephen Best, John R Grigg, Ivan Goldberg, Joseph E. Powell, David C. Whiteman, Graham L. Radford-Smith, Nicholas G. Martin, Grant W. Montgomery, Kathryn P. Burdon, David A. Mackey, Puya Gharahkhani, Jamie E. Craig and Alex W. Hewitt
Abstract: Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide1. Both IOP and POAG are highly heritable2. 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)3,4 that identified 101 statistically independent genome-wide-significant SNPs for IOP, 85 of which have not been previously reported4-12. 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.
Description: Published online: 27 July 2018
Rights: © 2018 Nature America Inc., part of Springer Nature. All rights reserved.
RMID: 0030095465
DOI: 10.1038/s41588-018-0176-y
Grant ID: http://purl.org/au-research/grants/nhmrc/1107098
http://purl.org/au-research/grants/nhmrc/1116360
http://purl.org/au-research/grants/nhmrc/1116495
http://purl.org/au-research/grants/nhmrc/1023911
Appears in Collections:Opthalmology & Visual Sciences publications

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