Journal article
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
S MacGregor, JS Ong, J An, X Han, T Zhou, OM Siggs, MH Law, E Souzeau, S Sharma, DJ Lynn, J Beesley, B Sheldrick, RA Mills, J Landers, JB Ruddle, SL Graham, PR Healey, AJR White, RJ Casson, S Best Show all
Nature Genetics | Published : 2018
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 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 ..
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Awarded by Australian Research Council
Funding Acknowledgements
This work was conducted by using the UK Biobank Resource (application number 25331) and publicly available data from the International Glaucoma Genetics Consortium. This work was supported by grants from the National Health and Medical Research Council (NHMRC) of Australia (1107098 (J.E.C.), 1116360 (D.A.M.), 1116495 (J.E.C.) and 1023911 (D.A.M.)), the Ophthalmic Research Institute of Australia and the BrightFocus Foundation. S.M. is supported by an Australian Research Council Future Fellowship. K.P.B., J.E.C. and A.W.H. are supported by NHMRC Fellowships. D.J.L. is supported by an EMBL Australia group leader award. We thank S. Wood and J. Pearson from QIMR Berghofer for IT support.