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
25173106
TITLE
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
ABSTRACT
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.
DATE PUBLISHED
2014 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2013/09/26
accepted 2014/08/07
aheadofprint 2014/08/31
entrez 2014/09/01 06:00
pubmed 2014/09/01 06:00
medline 2014/12/17 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Hysi PG Hysi Pirro G PG 1] Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. [2].
Cheng CY Cheng Ching-Yu CY 1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore. [3] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore. [4] Duke-National University of Singapore Graduate Medical School, Singapore. [5].
Springelkamp H Springelkamp Henriët H 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands. [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. [3].
Macgregor S Macgregor Stuart S 1] Statistical Genetics, QIMR Berghofer Medical Research Institute Royal Brisbane Hospital, Brisbane, Queensland, Australia. [2].
Bailey JN Bailey Jessica N Cooke JN 1] Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA. [2].
Wojciechowski R Wojciechowski Robert R 1] Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA. [2] National Human Genome Research Institute, US National Institutes of Health, Baltimore, Maryland, USA. [3].
Vitart V Vitart Veronique V Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Nag A Nag Abhishek A Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Hewitt AW Hewitt Alex W AW Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Höhn R Höhn René R Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Venturini C Venturini Cristina C 1] Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. [2] Institute of Ophthalmology, University College London, London, UK.
Mirshahi A Mirshahi Alireza A Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Ramdas WD Ramdas Wishal D WD 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands. [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Thorleifsson G Thorleifsson Gudmar G deCODE/Amgen, Reykjavik, Iceland.
Vithana E Vithana Eranga E 1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore. [3] Duke-National University of Singapore Graduate Medical School, Singapore.
Khor CC Khor Chiea-Chuen CC 1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore. [2] Division of Human Genetics, Genome Institute of Singapore, Singapore.
Stefansson AB Stefansson Arni B AB Eye Clinic, Reykjavik, Iceland.
Liao J Liao Jiemin J 1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore.
Haines JL Haines Jonathan L JL Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA.
Amin N Amin Najaf N Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Wang YX Wang Ya Xing YX Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China.
Wild PS Wild Philipp S PS Department of Internal Medicine II, University Medical Center Mainz, Mainz, Germany.
Ozel AB Ozel Ayse B AB Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Li JZ Li Jun Z JZ Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Fleck BW Fleck Brian W BW National Health Service (NHS) Princess Alexandra Eye Pavilion, Edinburgh, UK.
Zeller T Zeller Tanja T Clinic for General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany.
Staffieri SE Staffieri Sandra E SE Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Teo YY Teo Yik-Ying YY 1] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore. [2] Department of Statistics and Applied Probability, National University of Singapore, Singapore.
Cuellar-Partida G Cuellar-Partida Gabriel G Statistical Genetics, QIMR Berghofer Medical Research Institute Royal Brisbane Hospital, Brisbane, Queensland, Australia.
Luo X Luo Xiaoyan X Duke Eye Center, Duke University, Durham, North Carolina, USA.
Allingham RR Allingham R Rand RR Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
Richards JE Richards Julia E JE Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Senft A Senft Andrea A Institute of Medical Biometry and Statistics, University Hospital Schleswig-Holstein, Lübeck, Germany.
Karssen LC Karssen Lennart C LC Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Zheng Y Zheng Yingfeng Y 1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
Bellenguez C Bellenguez Céline C 1] INSERM, UMR 774, Lille, France. [2] Université Lille 2, Lille, France. [3] Institut Pasteur de Lille, Lille, France.
Xu L Xu Liang L Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China.
Iglesias AI Iglesias Adriana I AI Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Wilson JF Wilson James F JF Centre for Population Health Sciences, University of Edinburgh Medical School, Edinburgh, UK.
Kang JH Kang Jae H JH Channing Division of Network Medicine, Harvard Medical School, Boston, Massachusetts, USA.
van Leeuwen EM van Leeuwen Elisabeth M EM Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Jonsson V Jonsson Vesteinn V Department of Ophthalmology, Landspitali National University Hospital, Reykjavik, Iceland.
Thorsteinsdottir U Thorsteinsdottir Unnur U deCODE/Amgen, Reykjavik, Iceland.
Despriet DD Despriet Dominiek D G DD Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Ennis S Ennis Sarah S Human Genetics and Genomic Medicine, Faulty of Medicine, University of Southampton, Southampton, UK.
Moroi SE Moroi Sayoko E SE Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA.
Martin NG Martin Nicholas G NG Genetic Epidemiology, QIMR Berghofer Medical Research Institute Royal Brisbane Hospital, Brisbane, Queensland, Australia.
Jansonius NM Jansonius Nomdo M NM Department of Ophthalmology, University Medical Center Groningen, Groningen, the Netherlands.
Yazar S Yazar Seyhan S Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Tai ES Tai E-Shyong ES 1] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore. [2] Duke-National University of Singapore Graduate Medical School, Singapore. [3] Department of Medicine, National University of Singapore and National University Health System, Singapore.
Amouyel P Amouyel Philippe P 1] INSERM, UMR 774, Lille, France. [2] Université Lille 2, Lille, France. [3] Institut Pasteur de Lille, Lille, France. [4] Centre Hospitalier Régional Universitaire de Lille, Lille, France.
Kirwan J Kirwan James J Department of Ophthalmology, Portsmouth Hospitals NHS Trust, Portsmouth, UK.
van Koolwijk LM van Koolwijk Leonieke M E LM Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Hauser MA Hauser Michael A MA 1] Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA. [2] Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
Jonasson F Jonasson Fridbert F Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Leo P Leo Paul P The University of Queensland Diamantina Institute, Woollongabba, Queensland, Australia.
Loomis SJ Loomis Stephanie J SJ Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Fogarty R Fogarty Rhys R Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Rivadeneira F Rivadeneira Fernando F 1] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. [2] Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands. [3] Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, the Netherlands.
Kearns L Kearns Lisa L Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Lackner KJ Lackner Karl J KJ Institute of Clinical Chemistry and Laboratory Medicine, Mainz, Germany.
de Jong PT de Jong Paulus T V M PT 1] Netherlands Institute for Neuroscience, Amsterdam, the Netherlands. [2] Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands. [3] Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands.
Simpson CL Simpson Claire L CL National Human Genome Research Institute, US National Institutes of Health, Baltimore, Maryland, USA.
Pennell CE Pennell Craig E CE School of Women's and Infants' Health, University of Western Australia, Perth, Western Australia, Australia.
Oostra BA Oostra Ben A BA Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Uitterlinden AG Uitterlinden André G AG 1] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. [2] Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands. [3] Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, the Netherlands.
Saw SM Saw Seang-Mei SM 1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore. [3] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore. [4] Duke-National University of Singapore Graduate Medical School, Singapore.
Lotery AJ Lotery Andrew J AJ Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Bailey-Wilson JE Bailey-Wilson Joan E JE National Human Genome Research Institute, US National Institutes of Health, Baltimore, Maryland, USA.
Hofman A Hofman Albert A 1] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. [2] Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, the Netherlands.
Vingerling JR Vingerling Johannes R JR 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands. [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Maubaret C Maubaret Cécilia C 1] Université Bordeaux, ISPED (Institut de Santé Publique, d'Epidémiologie et de Développement), Bordeaux, France. [2] INSERM, Centre INSERM U897 Epidemiologie-Biostatistique Bordeaux, Bordeaux, France.
Pfeiffer N Pfeiffer Norbert N Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Wolfs RC Wolfs Roger C W RC Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Lemij HG Lemij Hans G HG Glaucoma Service, Rotterdam Eye Hospital, Rotterdam, the Netherlands.
Young TL Young Terri L TL Duke Eye Center, Duke University, Durham, North Carolina, USA.
Pasquale LR Pasquale Louis R LR 1] Channing Division of Network Medicine, Harvard Medical School, Boston, Massachusetts, USA. [2] Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Delcourt C Delcourt Cécile C 1] Université Bordeaux, ISPED (Institut de Santé Publique, d'Epidémiologie et de Développement), Bordeaux, France. [2] INSERM, Centre INSERM U897 Epidemiologie-Biostatistique Bordeaux, Bordeaux, France.
Spector TD Spector Timothy D TD Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Klaver CC Klaver Caroline C W CC 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands. [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Small KS Small Kerrin S KS Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Burdon KP Burdon Kathryn P KP Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Stefansson K Stefansson Kari K deCODE/Amgen, Reykjavik, Iceland.
Wong TY Wong Tien-Yin TY 1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore. [3] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
BMES GWAS Group
NEIGHBORHOOD Consortium
Wellcome Trust Case Control Consortium 2
Viswanathan A Viswanathan Ananth A 1] National Institute for Health Research (NIHR) Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and University College London Institute of Ophthalmology, London, UK. [2].
Mackey DA Mackey David A DA 1] Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia. [2] Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia. [3].
Craig JE Craig Jamie E JE 1] Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia. [2].
Wiggs JL Wiggs Janey L JL 1] Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA. [2].
van Duijn CM van Duijn Cornelia M CM 1] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. [2].
Hammond CJ Hammond Christopher J CJ 1] Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. [2].
Aung T Aung Tin T 1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore. [3].
INVESTIGATORS
JOURNAL
VOLUME: 46
ISSUE: 10
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2014
MONTH: Oct
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
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
CZB/4/438 Chief Scientist Office United Kingdom
CZB/4/710 Chief Scientist Office United Kingdom
K08 EY022943 NEI NIH HHS United States
P30 EY014104 NEI NIH HHS United States
R01 EY015473 NEI NIH HHS United States
R01 EY022124 NEI NIH HHS United States
R01 EY023512 NEI NIH HHS United States
SRF/01/010 Department of Health United Kingdom
U01 HG004728 NHGRI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
ABO Blood-Group System genetics
ATP Binding Cassette Transporter 1 genetics
Adult genetics
Aged genetics
Aged, 80 and over genetics
Chromosomes, Human, Pair 11 genetics
Chromosomes, Human, Pair 3 genetics
Chromosomes, Human, Pair 9 genetics
Cohort Studies genetics
Female genetics
Fibronectins genetics
Genetic Loci genetics
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Genotype genetics
Glaucoma genetics
Glaucoma, Open-Angle genetics
Humans genetics
Intraocular Pressure genetics
Male genetics
Meta-Analysis as Topic genetics
Middle Aged genetics
Polymorphism, Single Nucleotide genetics
Risk Factors genetics
Young Adult genetics
SUPPLEMENTARY MESH
SUPPLMESHNAME SUPPLMESHTYPE
Glaucoma, Primary Open Angle Disease
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 ABCA1 protein, human
0 ABO Blood-Group System
0 ATP Binding Cassette Transporter 1
0 FNDC3B protein, human
0 Fibronectins
OTHER ID's
OTHERID SOURCE
EMS59965 NLM
PMC4177225 NLM
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