Genetic Epidemiology, Psychiatric Genetics, Asthma 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
29449654
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.
DATE PUBLISHED
2018 Feb 15
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2017/08/23
accepted 2018/01/18
entrez 2018/02/17 06:00
pubmed 2018/02/17 06:00
medline 2018/02/17 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Gharahkhani P Gharahkhani Puya P QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Puya.Gharahkhani@qimrberghofer.edu.au.
Burdon KP Burdon Kathryn P KP University of Tasmania, Hobart, Tasmania, Australia.
Cooke Bailey JN Cooke Bailey Jessica N JN Population and Quantitative Health Sciences, Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Hewitt AW Hewitt Alex W AW University of Tasmania, Hobart, Tasmania, Australia.
Law MH Law Matthew H MH QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Pasquale LR Pasquale Louis R LR Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Kang JH Kang Jae H JH Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Haines JL Haines Jonathan L JL Population and Quantitative Health Sciences, Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Souzeau E Souzeau Emmanuelle E Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Zhou T Zhou Tiger T Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Siggs OM Siggs Owen M OM Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Landers J Landers John J Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Awadalla M Awadalla Mona M Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Sharma S Sharma Shiwani S Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Mills RA Mills Richard A RA Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Ridge B Ridge Bronwyn B Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Lynn D Lynn David D South Australian Health & Medical Research Institute, School of Medicine, Flinders University, Adelaide, South Australia, Australia.
Casson R Casson Robert R South Australian Institute of Ophthalmology, University of Adelaide, Adelaide, South Australia, Australia.
Graham SL Graham Stuart L SL Ophthalmology and Vision Science, Macquarie University, Sydney, New South Wales, Australia.
Goldberg I Goldberg Ivan I Department of Ophthalmology, University of Sydney, Sydney, Australia.
White A White Andrew A Centre for Vision Research, The Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia.
Healey PR Healey Paul R PR Centre for Vision Research, The Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia.
Grigg J Grigg John J Department of Ophthalmology, University of Sydney, Sydney, Australia.
Lawlor M Lawlor Mitchell M Department of Ophthalmology, University of Sydney, Sydney, Australia.
Mitchell P Mitchell Paul P Centre for Vision Research, The Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia.
Ruddle J Ruddle Jonathan J Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Coote M Coote Michael M Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Walland M Walland Mark M Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Best S Best Stephen S Department of Ophthalmology, University of Auckland, Auckland, New Zealand.
Vincent A Vincent Andrea A Department of Ophthalmology, University of Auckland, Auckland, New Zealand.
Gale J Gale Jesse J Department of Ophthalmology, University of Otago, Dunedin, Otago, New Zealand.
RadfordSmith G RadfordSmith Graham G School of Medicine, University of Queensland, Herston Campus, Brisbane, QLD, Australia.
Whiteman DC Whiteman David C DC QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Montgomery GW Montgomery Grant W GW Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Mackey DA Mackey David A DA Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.
Wiggs JL Wiggs Janey L JL Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
MacGregor S MacGregor Stuart S QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Craig JE Craig Jamie E JE Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia. jamie.craig@flinders.edu.au.
NEIGHBORHOOD consortium
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Allingham R Rand RR
Brilliant Murray M
Budenz Donald L DL
Fingert John H JH
Gaasterland Douglas D
Gaasterland Teresa T
Hark Lisa L
Hauser Michael M
Igo Robert P RP
Kraft Peter P
Lee Richard K RK
Lichter Paul R PR
Liu Yutao Y
Moroi Syoko S
Pericak-Vance Margaret M
Realini Anthony A
Rhee Doug D
Richards Julia E JE
Ritch Robert R
Schuman Joel S JS
Scott William K WK
Singh Kuldev K
Sit Arthur J AJ
Vollrath Douglas D
Wollstein Gadi G
Zack Donald J DJ
JOURNAL
VOLUME: 8
ISSUE: 1
TITLE: Scientific reports
ISOABBREVIATION: Sci Rep
YEAR: 2018
MONTH: Feb
DAY: 15
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 2045-2322
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Sci Rep
COUNTRY: England
ISSNLINKING: 2045-2322
NLMUNIQUEID: 101563288
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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