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Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma


Gharahkhani, P and Burdon, KP and Cooke Bailey, JN and Hewitt, AW and Law, MH and Pasquale, LR and Kang, JH and Haines, JL and Souzeau, E and Zhou, T and Siggs, OM and Landers, J and Awadalla, M and Sharma, S and Mills, RA and Ridge, B and Lynn, D and Casson, R and Graham, SL and Goldberg, I and White, A and Healey, PR and Grigg, J and Lawlor, M and Mitchell, P and Ruddle, J and Coote, M and Walland, M and Best, S and Vincent, A and Gale, J and RadfordSmith, G and Whiteman, DC and Montgomery, GW and Martin, NG and MacKey, DA and Wiggs, JL and MacGregor, S and Craig, JE, & the NEIGHBORHOOD consortium, Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma, Scientific Reports, 8, (1) Article 3124. ISSN 2045-2322 (2018) [Refereed Article]


Copyright Statement

2018 The Authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1038/s41598-018-20435-9


Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocular pressure (IOP) and optic disc parameters (the overall meta-analysis sample size varying between 32,000 to 48,000 participants), which are glaucoma-related traits. We identified and independently validated four novel genome-wide significant associations within or near MYOF and CYP26A1, LINC02052 and CRYGS, LMX1B, and LMO7 using single variant tests, one additional locus (C9) using gene-based tests, and two genetic pathways - "response to fluid shear stress" and "abnormal retina morphology" - in pathway-based tests. Interestingly, some of the new risk loci contribute to risk of other genetically-correlated eye diseases including myopia and age-related macular degeneration. To our knowledge, this study is the first integrative study to combine genetic data from OAG and its correlated traits to identify new risk variants and genetic pathways, highlighting the future potential of combining genetic data from genetically-correlated eye traits for the purpose of gene discovery and mapping

Item Details

Item Type:Refereed Article
Keywords:quantitative trait, glaucoma, association, genetics
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:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:MacKey, DA (Professor David Mackey)
ID Code:126986
Year Published:2018
Funding Support:National Health and Medical Research Council (1059954)
Web of Science® Times Cited:22
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-07-06
Last Modified:2022-08-25
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