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


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.

Type Journal
ISBN 1546-1718 (Electronic) 1061-4036 (Linking)
Authors MacGregor, S.; Ong, J. S.; An, J.; Han, X.; Zhou, T.; Siggs, O. M.; Law, M. H.; Souzeau, E.; Sharma, S.; Lynn, D. J.; Beesley, J.; Sheldrick, B.; Mills, R. A.; Landers, J.; Ruddle, J. B.; Graham, S. L.; Healey, P. R.; White, A. J. R.; Casson, R. J.; Best, S.; Grigg, J. R.; Goldberg, I.; Powell, J. E.; Whiteman, D. C.; Radford-Smith, G. L.; Martin, N. G.; Montgomery, G. W.; Burdon, K. P.; Mackey, D. A.; Gharahkhani, P.; Craig, J. E.; Hewitt, A. W.
Responsible Garvan Author Prof Joseph Powell
Published Date 2018-08-01
Published Volume 50
Published Issue 8
Published Pages 1067-1071
Status Published in-print
DOI 10.1038/s41588-018-0176-y
URL link to publisher's version