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
21151130
TITLE
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
ABSTRACT
Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (P = 2.6 × 10⁻⁷, odds ratio (OR) = 1.22, 95% CI 1.13-1.32) and for moderate to severe disease (P = 1.5 × 10⁻⁹, OR = 1.38, 95% CI 1.24-1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (P = 1.2 × 10⁻³, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 × 10⁻⁹ (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10.
DATE PUBLISHED
2011 Jan
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2010/05/14
accepted 2010/11/17
aheadofprint 2010/12/12
entrez 2010/12/15 06:00
pubmed 2010/12/15 06:00
medline 2011/02/23 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Painter JN Painter Jodie N JN Molecular Epidemiology, Queensland Institute of Medical Research, Herston, Queensland, Australia. jodie.painter@qimr.edu.au
Anderson CA Anderson Carl A CA
Nyholt DR Nyholt Dale R DR
Macgregor S Macgregor Stuart S
Lin J Lin Jianghai J
Lee SH Lee Sang Hong SH
Lambert A Lambert Ann A
Zhao ZZ Zhao Zhen Z ZZ
Roseman F Roseman Fenella F
Guo Q Guo Qun Q
Gordon SD Gordon Scott D SD
Wallace L Wallace Leanne L
Henders AK Henders Anjali K AK
Visscher PM Visscher Peter M PM
Kraft P Kraft Peter P
Martin NG Martin Nicholas G NG
Morris AP Morris Andrew P AP
Treloar SA Treloar Susan A SA
Kennedy SH Kennedy Stephen H SH
Missmer SA Missmer Stacey A SA
Montgomery GW Montgomery Grant W GW
Zondervan KT Zondervan Krina T KT
INVESTIGATORS
JOURNAL
VOLUME: 43
ISSUE: 1
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2011
MONTH: Jan
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, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
064890 Wellcome Trust United Kingdom
081682 Wellcome Trust United Kingdom
084766 Wellcome Trust United Kingdom
085235 Wellcome Trust United Kingdom
P01 CA087969 NCI NIH HHS United States
P01 DK070756 NIDDK NIH HHS United States
R01 CA049449 NCI NIH HHS United States
R01 CA050385 NCI NIH HHS United States
R01 CA067262 NCI NIH HHS United States
R01 HD052473 NICHD NIH HHS United States
R01 HD057210 NICHD NIH HHS United States
U01 CA098233 NCI NIH HHS United States
WT084766/Z/08/Z Wellcome Trust United Kingdom
WT085235/Z/08/Z Wellcome Trust United Kingdom
WT91745/Z/10/Z Wellcome Trust United Kingdom
Howard Hughes Medical Institute United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Australia
Basic-Leucine Zipper Transcription Factors genetics
Chromosomes, Human, Pair 15 genetics
Cohort Studies genetics
Endometriosis genetics
Female genetics
Genetic Loci genetics
Genetic Predisposition to Disease genetics
Genome, Human genetics
Genome-Wide Association Study genetics
Great Britain genetics
Homeodomain Proteins genetics
Humans genetics
Odds Ratio genetics
Risk Factors genetics
United States genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Basic-Leucine Zipper Transcription Factors
0 Homeodomain Proteins
0 NFE2L3 protein, human
140441-81-2 HOXA10 protein, human
OTHER ID's
OTHERID SOURCE
PMC3019124 NLM
UKMS33578 NLM
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