| Literature DB >> 30054594 |
Stuart MacGregor1, Jue-Sheng Ong2, Jiyuan An2, Xikun Han2, Tiger Zhou3, Owen M Siggs3, Matthew H Law2, Emmanuelle Souzeau3, Shiwani Sharma3, David J Lynn4,5,6, Jonathan Beesley2, Bronwyn Sheldrick3, Richard A Mills3, John Landers3, Jonathan B Ruddle7, Stuart L Graham8, Paul R Healey9,10, Andrew J R White9, Robert J Casson11, Stephen Best12, John R Grigg10, Ivan Goldberg10, Joseph E Powell13,14, David C Whiteman2, Graham L Radford-Smith2,15, Nicholas G Martin2, Grant W Montgomery16, Kathryn P Burdon3,17, David A Mackey17,18, Puya Gharahkhani2, Jamie E Craig3, Alex W Hewitt7,17.
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.Entities:
Mesh：
Year: 2018 PMID： 30054594 DOI： 10.1038/s41588-018-0176-y
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330