Nature genetics · 2018
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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MacGregor Stuart, Ong Jue-Sheng, An Jiyuan, Han Xikun, Zhou Tiger, Siggs Owen M, Law Matthew H, Souzeau Emmanuelle, Sharma Shiwani, Lynn David J, Beesley Jonathan, Sheldrick Bronwyn, Mills Richard A, Landers John, Ruddle Jonathan B, Graham Stuart L, Healey Paul R, White Andrew J R, Casson Robert J, Best Stephen, Grigg John R, Goldberg Ivan, Powell Joseph E, Whiteman David C, Radford-Smith Graham L, Martin Nicholas G, Montgomery Grant W, Burdon Kathryn P, Mackey David A, Gharahkhani Puya, Craig Jamie E, Hewitt Alex W
Аннотация
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.