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Abstract #78212 Published in IGR 19-4
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
Macgregor S; Ong JS; An J; Han X; Zhou T; Siggs OM; Law MH; Souzeau E; Sharma S; Lynn DJ; Beesley J; Sheldrick B; Mills RA; Landers J; Ruddle JB; Graham SL; Healey PR; White AJR; Casson RJ; Best S; Grigg JR; Goldberg I; Powell JE; Whiteman DC; Radford-SmiNature Genetics 2018; 50: 1067-1071
See also comment(s) by Tin Aung & Eranga Vithana •
Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG are highly heritable. 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) that identified 101 statistically independent genome-wide-significant SNPs for IOP, 85 of which have not been previously reported. 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.
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. stuart.macgregor@qimrberghofer.edu.au.
Full articleClassification:
6.1.3 Factors affecting IOP (Part of: 6 Clinical examination methods > 6.1 Intraocular pressure measurement; factors affecting IOP)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
