@article{822d00f6c0474dec88aa1c0a35aab591,
title = "Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma",
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.",
author = "Puya Gharahkhani and Burdon, {Kathryn P.} and {Cooke Bailey}, {Jessica N.} and Hewitt, {Alex W.} and Law, {Matthew H.} and Pasquale, {Louis R.} and Kang, {Jae H.} and Haines, {Jonathan L.} and Emmanuelle Souzeau and Tiger Zhou and Siggs, {Owen M.} and John Landers and Mona Awadalla and Shiwani Sharma and Mills, {Richard A.} and Bronwyn Ridge and David Lynn and Robert Casson and Graham, {Stuart L.} and Ivan Goldberg and Andrew White and Healey, {Paul R.} and John Grigg and Mitchell Lawlor and Paul Mitchell and Jonathan Ruddle and Michael Coote and Mark Walland and Stephen Best and Andrea Vincent and Jesse Gale and Graham Radfordsmith and Whiteman, {David C.} and Montgomery, {Grant W.} and Martin, {Nicholas G.} and MacKey, {David A.} and Wiggs, {Janey L.} and Stuart MacGregor and Craig, {Jamie E.} and Allingham, {R. Rand} and Murray Brilliant and Budenz, {Donald L.} and Fingert, {John H.} and Douglas Gaasterland and Teresa Gaasterland and Lisa Hark and Michael Hauser and Igo, {Robert P.} and Peter Kraft and Lee, {Richard K.} and Lichter, {Paul R.} and Yutao Liu and Syoko Moroi and Margaret Pericak-Vance and Anthony Realini and Doug Rhee and Richards, {Julia E.} and Robert Ritch and Schuman, {Joel S.} and Scott, {William K.} and Kuldev Singh and Sit, {Arthur J.} and Douglas Vollrath and Gadi Wollstein and Zack, {Donald J.} and {The NEIGHBORHOOD consortium}",
note = "Copyright the Author(s) 2018. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.",
year = "2018",
month = dec,
day = "1",
doi = "10.1038/s41598-018-20435-9",
language = "English",
volume = "8",
pages = "1--12",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "Springer, Springer Nature",
number = "1",
}