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
20835238
TITLE
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
ABSTRACT
We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 × 10⁻¹⁰). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
DATE PUBLISHED
2010 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2010/01/06
accepted 2010/08/18
aheadofprint 2010/09/12
entrez 2010/09/14 06:00
pubmed 2010/09/14 06:00
medline 2010/10/29 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Thorleifsson G Thorleifsson Gudmar G deCODE genetics Inc, Reykjavik, Iceland. gudmar.thorleifsson@decode.is
Walters GB Walters G Bragi GB
Hewitt AW Hewitt Alex W AW
Masson G Masson Gisli G
Helgason A Helgason Agnar A
DeWan A DeWan Andrew A
Sigurdsson A Sigurdsson Asgeir A
Jonasdottir A Jonasdottir Adalbjorg A
Gudjonsson SA Gudjonsson Sigurjon A SA
Magnusson KP Magnusson Kristinn P KP
Stefansson H Stefansson Hreinn H
Lam DS Lam Dennis S C DS
Tam PO Tam Pancy O S PO
Gudmundsdottir GJ Gudmundsdottir Gudrun J GJ
Southgate L Southgate Laura L
Burdon KP Burdon Kathryn P KP
Gottfredsdottir MS Gottfredsdottir Maria Soffia MS
Aldred MA Aldred Micheala A MA
Mitchell P Mitchell Paul P
St Clair D St Clair David D
Collier DA Collier David A DA
Tang N Tang Nelson N
Sveinsson O Sveinsson Orn O
Macgregor S Macgregor Stuart S
Martin NG Martin Nicholas G NG
Cree AJ Cree Angela J AJ
Gibson J Gibson Jane J
Macleod A Macleod Alex A
Jacob A Jacob Aby A
Ennis S Ennis Sarah S
Young TL Young Terri L TL
Chan JC Chan Juliana C N JC
Karwatowski WS Karwatowski Wojciech S S WS
Hammond CJ Hammond Christopher J CJ
Thordarson K Thordarson Kristjan K
Zhang M Zhang Mingzhi M
Wadelius C Wadelius Claes C
Lotery AJ Lotery Andrew J AJ
Trembath RC Trembath Richard C RC
Pang CP Pang Chi Pui CP
Hoh J Hoh Josephine J
Craig JE Craig Jamie E JE
Kong A Kong Augustine A
Mackey DA Mackey David A DA
Jonasson F Jonasson Fridbert F
Thorsteinsdottir U Thorsteinsdottir Unnur U
Stefansson K Stefansson Kari K
INVESTIGATORS
JOURNAL
VOLUME: 42
ISSUE: 10
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2010
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
Comparative Study
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites Hum Mol Genet. 2005 Mar 15;14(6):725-33 15677485
Cites Bull World Health Organ. 2004 Nov;82(11):844-51 15640920
Cites Prog Retin Eye Res. 2007 May;26(3):205-38 17337232
Cites Exp Eye Res. 2009 Apr;88(4):837-44 19061886
Cites Exp Eye Res. 2009 Apr;88(4):648-55 19239914
Cites Exp Eye Res. 2009 Apr;88(4):683-8 19385040
Cites Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12838-42 19625618
Cites Am J Hum Genet. 2009 Oct;85(4):447-56 19765683
Cites Twin Res Hum Genet. 2009 Oct;12(5):441-54 19803772
Cites Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):E125-6; author reply E127 19846772
Cites Cell Cycle. 2009 Dec;8(23):3978-83 19923909
Cites Nat Genet. 2010 Feb;42(2):117-22 20062063
Cites Mol Vis. 2007;13:881-6 17615539
Cites Science. 2007 Sep 7;317(5843):1397-400 17690259
Cites Nature. 2007 Oct 18;449(7164):851-61 17943122
Cites Annu Rev Pharmacol Toxicol. 2008;48:359-91 17914930
Cites Nature. 2008 Mar 27;452(7186):423-8 18344981
Cites Invest Ophthalmol Vis Sci. 2008 Aug;49(8):3465-8 18421074
Cites Nat Genet. 2008 Sep;40(9):1068-75 19165921
Cites Int Rev Cell Mol Biol. 2009;273:117-62 19215904
Cites Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3678-93 11053263
Cites Biometrics. 1999 Dec;55(4):997-1004 11315092
Cites Adv Drug Deliv Rev. 2001 Jul 28;49(3):223-35 11551396
Cites Science. 2002 Feb 8;295(5557):1077-9 11834836
Cites Prog Retin Eye Res. 2003 Jul;22(4):435-63 12742391
Cites Eye (Lond). 2003 Aug;17(6):747-53 12928689
Cites Mol Interv. 2003 Dec;3(8):445-64 14993453
Cites Science. 1997 Jan 31;275(5300):668-70 9005853
Cites J Biol Chem. 1997 Jul 25;272(30):18522-5 9228013
Cites J Biol Chem. 1997 Oct 10;272(41):25437-40 9325253
Cites Clin Biochem. 2006 Mar;39(3):249-58 16332362
GRANTS
GRANTID AGENCY COUNTRY
1R01EY018246 NEI NIH HHS United States
R01 EY014685 NEI NIH HHS United States
R01 EY018246 NEI NIH HHS United States
R01 EY018246-03 NEI NIH HHS United States
Wellcome Trust United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Aged
Aged, 80 and over
Case-Control Studies
Caveolin 1 genetics
Caveolin 2 genetics
Chromosomes, Human, Pair 7 genetics
Female genetics
Genetic Predisposition to Disease genetics
Genome, Human genetics
Genome-Wide Association Study genetics
Genotype genetics
Glaucoma, Open-Angle pathology
Humans pathology
Male pathology
Middle Aged pathology
Polymorphism, Single Nucleotide genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 CAV1 protein, human
0 CAV2 protein, human
0 Caveolin 1
0 Caveolin 2
OTHER ID's
OTHERID SOURCE
NIHMS290105 NLM
PMC3222888 NLM