Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
30054594
TITLE
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
ABSTRACT
Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide . Both IOP and POAG are highly heritable . 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) that identified 101 statistically independent genome-wide-significant SNPs for IOP, 85 of which have not been previously reported . 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.
DATE PUBLISHED
2018 08
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2017/08/21
accepted 2018/06/13
pubmed 2018/07/29 06:00
medline 2019/04/25 06:00
entrez 2018/07/29 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
MacGregor S MacGregor Stuart S QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. stuart.macgregor@qimrberghofer.edu.au.
Ong JS Ong Jue-Sheng JS QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
An J An Jiyuan J QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Han X Han Xikun X QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Zhou T Zhou Tiger T Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Siggs OM Siggs Owen M OM Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Law MH Law Matthew H MH QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Souzeau E Souzeau Emmanuelle E Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Sharma S Sharma Shiwani S Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Lynn DJ Lynn David J DJ College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
Beesley J Beesley Jonathan J QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Sheldrick B Sheldrick Bronwyn B Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Mills RA Mills Richard A RA Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Landers J Landers John J Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Ruddle JB Ruddle Jonathan B JB Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia.
Graham SL Graham Stuart L SL Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Healey PR Healey Paul R PR Discipline of Ophthalmology, Faculty of Medicine & Health Sciences, University of Sydney, Sydney Eye Hospital, Sydney, New South Wales, Australia.
White AJR White Andrew J R AJR Centre for Vision Research, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Casson RJ Casson Robert J RJ South Australian Institute of Ophthalmology, University of Adelaide, Adelaide, South Australia, Australia.
Best S Best Stephen S Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.
Grigg JR Grigg John R JR Discipline of Ophthalmology, Faculty of Medicine & Health Sciences, University of Sydney, Sydney Eye Hospital, Sydney, New South Wales, Australia.
Goldberg I Goldberg Ivan I Discipline of Ophthalmology, Faculty of Medicine & Health Sciences, University of Sydney, Sydney Eye Hospital, Sydney, New South Wales, Australia.
Powell JE Powell Joseph E JE St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
Whiteman DC Whiteman David C DC QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Radford-Smith GL Radford-Smith Graham L GL University of Queensland School of Medicine, Brisbane, Queensland, Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Montgomery GW Montgomery Grant W GW Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
Burdon KP Burdon Kathryn P KP Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Mackey DA Mackey David A DA Centre for Ophthalmology and Visual Science, University of Western Australia, Crawley, Western Australia, Australia.
Gharahkhani P Gharahkhani Puya P QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Craig JE Craig Jamie E JE Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
Hewitt AW Hewitt Alex W AW Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
INVESTIGATORS
JOURNAL
VOLUME: 50
ISSUE: 8
TITLE: Nature genetics
ISOABBREVIATION: Nat Genet
YEAR: 2018
MONTH: 08
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
MC_PC_17228 Medical Research Council United Kingdom
MC_QA137853 Medical Research Council United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Female
Genome-Wide Association Study methods
Genotype methods
Glaucoma genetics
Humans genetics
Intraocular Pressure genetics
Male genetics
Polymorphism, Single Nucleotide genetics
Risk Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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