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
23104006
TITLE
Genome-wide association meta-analysis identifies new endometriosis risk loci.
ABSTRACT
We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese and European ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, replicates in Japanese (P = 3.6 ? 10(-3)), and we confirm association of rs7521902 at 1p36.12 near WNT4. In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at P <5 ? 10(-8) in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the genome-wide association cohorts of European and Japanese descent (P = 8.8 ? 10(-11)), indicating that many weakly associated SNPs represent true endometriosis risk loci and that risk prediction and future targeted disease therapy may be transferred across these populations.
DATE PUBLISHED
2012 Dec
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2012/05/16
accepted 2012/09/24
aheadofprint 2012/10/28
entrez 2012/10/30 06:00
pubmed 2012/10/30 06:00
medline 2013/02/14 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Nyholt DR Nyholt Dale R DR Queensland Institute of Medical Research, Brisbane, Queensland, Australia. dale.nyholt@qimr.edu.au
Low SK Low Siew-Kee SK
Anderson CA Anderson Carl A CA
Painter JN Painter Jodie N JN
Uno S Uno Satoko S
Morris AP Morris Andrew P AP
MacGregor S MacGregor Stuart S
Gordon SD Gordon Scott D SD
Henders AK Henders Anjali K AK
Martin NG Martin Nicholas G NG
Attia J Attia John J
Holliday EG Holliday Elizabeth G EG
McEvoy M McEvoy Mark M
Scott RJ Scott Rodney J RJ
Kennedy SH Kennedy Stephen H SH
Treloar SA Treloar Susan A SA
Missmer SA Missmer Stacey A SA
Adachi S Adachi Sosuke S
Tanaka K Tanaka Kenichi K
Nakamura Y Nakamura Yusuke Y
Zondervan KT Zondervan Krina T KT
Zembutsu H Zembutsu Hitoshi H
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 44
ISSUE: 12
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2012
MONTH: Dec
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
Meta-Analysis
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
076113 Wellcome Trust United Kingdom
084766 Wellcome Trust United Kingdom
085235 Wellcome Trust United Kingdom
085475 Wellcome Trust United Kingdom
090532 Wellcome Trust United Kingdom
098017 Wellcome Trust United Kingdom
098051 Wellcome Trust United Kingdom
WT084766/Z/08/Z Wellcome Trust United Kingdom
WT085235/Z/08/Z Wellcome Trust United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Asian Continental Ancestry Group genetics
Carrier Proteins genetics
Chromosomes, Human, Pair 1 genetics
Chromosomes, Human, Pair 2 genetics
Chromosomes, Human, Pair 6 genetics
Chromosomes, Human, Pair 7 genetics
Chromosomes, Human, Pair 9 genetics
Cohort Studies genetics
Endometriosis genetics
European Continental Ancestry Group genetics
Female genetics
Genetic Loci genetics
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Humans genetics
Membrane Proteins genetics
Neoplasm Proteins genetics
Polymorphism, Single Nucleotide genetics
Risk genetics
Severity of Illness Index genetics
Wnt4 Protein genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Carrier Proteins
0 GREB1 protein, human
0 Membrane Proteins
0 Neoplasm Proteins
0 VEZT protein, human
0 WNT4 protein, human
0 Wnt4 Protein
OTHER ID's
OTHERID SOURCE
EMS50444 NLM
PMC3527416 NLM