Journal article
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Scientific reports, Vol.8(1), p.3124
02/15/2018
DOI: 10.1038/s41598-018-20435-9
PMCID: PMC5814451
PMID: 29449654
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.
Details
- Title: Subtitle
- Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
- Creators
- Puya Gharahkhani - QIMR Berghofer Medical Research InstituteKathryn P Burdon - Flinders UniversityJessica N Cooke Bailey - Case Western Reserve UniversityAlex W Hewitt - University of TasmaniaMatthew H Law - QIMR Berghofer Medical Research InstituteLouis R Pasquale - Mount Sinai HospitalJae H Kang - Harvard UniversityJonathan L Haines - Case Western Reserve UniversityEmmanuelle Souzeau - Department of Ophthalmology, Flinders University, Adelaide, South Australia, AustraliaTiger Zhou - Department of Ophthalmology, Flinders University, Adelaide, South Australia, AustraliaOwen M Siggs - Department of Ophthalmology, Flinders University, Adelaide, South Australia, AustraliaJohn Landers - Department of Ophthalmology, Flinders University, Adelaide, South Australia, AustraliaMona Awadalla - Flinders UniversityShiwani Sharma - Flinders UniversityRichard A Mills - Department of Ophthalmology, Flinders University, Adelaide, South Australia, AustraliaBronwyn Ridge - Department of Ophthalmology, Flinders University, Adelaide, South Australia, AustraliaDavid Lynn - Flinders UniversityRobert Casson - The University of AdelaideStuart L Graham - Ophthalmology and Vision Science, Macquarie University, Sydney, New South Wales, AustraliaIvan Goldberg - Department of Ophthalmology, University of Sydney, Sydney, AustraliaAndrew White - The University of SydneyPaul R Healey - Centre for Vision Research, The Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, AustraliaJohn Grigg - The University of SydneyMitchell Lawlor - The University of SydneyPaul Mitchell - The University of SydneyJonathan Ruddle - The University of MelbourneMichael Coote - The University of MelbourneMark Walland - The University of MelbourneStephen Best - University of AucklandAndrea Vincent - University of AucklandJesse Gale - University of OtagoGraham RadfordSmith - The University of QueenslandDavid C Whiteman - QIMR Berghofer Medical Research InstituteGrant W Montgomery - Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, AustraliaNicholas G Martin - QIMR Berghofer Medical Research Institute, Brisbane, Queensland, AustraliaDavid A Mackey - University of TasmaniaJaney L Wiggs - Harvard UniversityStuart MacGregor - QIMR Berghofer Medical Research Institute, Brisbane, Queensland, AustraliaJamie E Craig - Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia. jamie.craig@flinders.edu.auNEIGHBORHOOD consortium
- Resource Type
- Journal article
- Publication Details
- Scientific reports, Vol.8(1), p.3124
- DOI
- 10.1038/s41598-018-20435-9
- PMID
- 29449654
- PMCID
- PMC5814451
- NLM abbreviation
- Sci Rep
- ISSN
- 2045-2322
- eISSN
- 2045-2322
- Grant note
- UM1 CA167552 / NCI NIH HHS R01 CA136725 / NCI NIH HHS P30 EY014104 / NEI NIH HHS U01 HG004424 / NHGRI NIH HHS R21 EY028671 / NEI NIH HHS R01 CA131332 / NCI NIH HHS UL1 TR000427 / NCATS NIH HHS U01 HG004446 / NHGRI NIH HHS UM1 CA186107 / NCI NIH HHS R01 EY022305 / NEI NIH HHS
- Language
- English
- Date published
- 02/15/2018
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9984181076102771
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