Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/117252
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Type: Journal article
Title: Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Author: Gharahkhani, P.
Burdon, K.
Cooke Bailey, J.
Hewitt, A.
Law, M.
Pasquale, L.
Kang, J.
Haines, J.
Souzeau, E.
Zhou, T.
Siggs, O.
Landers, J.
Awadalla, M.
Sharma, S.
Mills, R.
Ridge, B.
Lynn, D.
Casson, R.
Graham, S.
Goldberg, I.
et al.
Citation: Scientific Reports, 2018; 8(1):3124-1-3124-12
Publisher: Springer Nature
Issue Date: 2018
ISSN: 2045-2322
2045-2322
Statement of
Responsibility: 
Puya Gharahkhani … Robert Casson … et al. [and The NEIGHBORHOOD consortium].
Abstract: 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.
Keywords: NEIGHBORHOOD consortium
Rights: © The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
RMID: 0030082096
DOI: 10.1038/s41598-018-20435-9
Grant ID: http://purl.org/au-research/grants/nhmrc/535074
http://purl.org/au-research/grants/nhmrc/1023911
http://purl.org/au-research/grants/nhmrc/1031362
http://purl.org/au-research/grants/nhmrc/1037838
http://purl.org/au-research/grants/nhmrc/1048037
http://purl.org/au-research/grants/nhmrc/1009844
http://purl.org/au-research/grants/nhmrc/1031920
http://purl.org/au-research/grants/nhmrc/199600
http://purl.org/au-research/grants/nhmrc/552429
http://purl.org/au-research/grants/nhmrc/241944
http://purl.org/au-research/grants/nhmrc/339462
http://purl.org/au-research/grants/nhmrc/389927
http://purl.org/au-research/grants/nhmrc/389875
http://purl.org/au-research/grants/nhmrc/389891
http://purl.org/au-research/grants/nhmrc/389892
http://purl.org/au-research/grants/nhmrc/389938
http://purl.org/au-research/grants/nhmrc/443036
http://purl.org/au-research/grants/nhmrc/442915
http://purl.org/au-research/grants/nhmrc/442981
http://purl.org/au-research/grants/nhmrc/496610
http://purl.org/au-research/grants/nhmrc/496739
http://purl.org/au-research/grants/nhmrc/552485
http://purl.org/au-research/grants/nhmrc/552498
http://purl.org/au-research/grants/nhmrc/1049472
http://purl.org/au-research/grants/nhmrc/1050208
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