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


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MacGregor, S, Ong, J-S, An, J, Han, X, Zhou, T, Siggs, OM, Law, MH, Souzeau, E, Sharma, Shiwani, 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-Smith, GL, Martin, NG, Montgomery, GW, Burdon, KP ORCID: 0000-0001-8217-1249, Mackey, DA, Gharahkhani, P, Craig, JE and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma' , Nature Genetics, vol. 50, no. 8 , pp. 1067-1071 , doi: 10.1038/s41588-018-0176-y.

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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.

Item Type: Article
Authors/Creators: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, Shiwani 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
Journal or Publication Title: Nature Genetics
Publisher: Nature Publishing Group
ISSN: 1061-4036
DOI / ID Number: 10.1038/s41588-018-0176-y
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Copyright 2018 Springer Nature Limited

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