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

Stuart MacGregor, Jue Sheng Ong, Jiyuan An, Xikun Han, Tiger Zhou, Owen Marc Siggs, Matthew H. Law, Emmanuelle Souzeau, Shiwani C. Sharma, David J. Lynn, Jonathan Beesley, Bronwyn Sheldrick, Richard A.D. Mills, John A. Landers, Jonathan B. Ruddle, Stuart L. Graham, Paul R. Healey, Andrew J.R. White, Robert J. Casson, Stephen J. BestJohn 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 Evan Craig, A. W. Hewitt

Research output: Contribution to journalLetterpeer-review

120 Citations (Scopus)


Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide 1 . Both IOP and POAG are highly heritable 2 . 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 reported 4–12 . 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.

Original languageEnglish
Pages (from-to)1067-1071
Number of pages5
JournalNature Genetics
Issue number8
Publication statusPublished - 1 Aug 2018


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