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


MacGregor, S and Ong, J-S and An, J and Han, X and Zhou, T and Siggs, OM and Law, MH and Souzeau, E and Sharma, S and Lynn, DJ and Beesley, J and Sheldrick, B and Mills, RA and Landers, J and Ruddle, JB and Graham, SL and Healey, PR and White, AJR and Casson, RJ and Best, S and Grigg, JR and Goldberg, I and Powell, JE and Whiteman, DC and Radford-Smith, GL and Martin, NG and Montgomery, GW and Burdon, KP and Mackey, DA and Gharahkhani, P and Craig, JE and Hewitt, AW, Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma, Nature Genetics, 50, (8) pp. 1067-1071. ISSN 1061-4036 (2018) [Refereed Article]


Copyright Statement

Copyright 2018 Springer Nature Limited

DOI: doi:10.1038/s41588-018-0176-y


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.

Item Details

Item Type:Refereed Article
Keywords:glaucoma, intraocular pressure, genome studies, genome-wide association study
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:127796
Year Published:2018
Web of Science® Times Cited:80
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-08-16
Last Modified:2022-08-25
Downloads:19 View Download Statistics

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