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
21497341
TITLE
High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19.
ABSTRACT
OBJECTIVE NlmCategory: OBJECTIVE
To refine a previously reported linkage peak for endometriosis on chromosome 10q26, and conduct follow-up analyses and a fine-mapping association study across the region to identify new candidate genes for endometriosis.
DESIGN NlmCategory: METHODS
Case-control study.
SETTING NlmCategory: METHODS
Academic research.
PATIENT(S) NlmCategory: METHODS
Cases=3,223 women with surgically confirmed endometriosis; controls=1,190 women without endometriosis and 7,060 population samples.
INTERVENTION(S) NlmCategory: METHODS
Analysis of 11,984 single nucleotide polymorphisms on chromosome 10.
MAIN OUTCOME MEASURE(S) NlmCategory: METHODS
Allele frequency differences between cases and controls.
RESULT(S) NlmCategory: RESULTS
Linkage analyses on families grouped by endometriosis symptoms (primarily subfertility) provided increased evidence for linkage (logarithm of odds score=3.62) near a previously reported linkage peak. Three independent association signals were found at 96.59 Mb (rs11592737), 105.63 Mb (rs1253130), and 124.25 Mb (rs2250804). Analyses including only samples from linkage families supported the association at all three regions. However, only rs11592737 in the cytochrome P450 subfamily C (CYP2C19) gene was replicated in an independent sample of 2,079 cases and 7,060 population controls.
CONCLUSION(S) NlmCategory: CONCLUSIONS
The role of the CYP2C19 gene in conferring risk for endometriosis warrants further investigation.
Copyright 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
DATE PUBLISHED
2011 Jun
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2010/12/29
revised 2011/02/18
accepted 2011/03/14
aheadofprint 2011/04/16
entrez 2011/04/19 06:00
pubmed 2011/04/19 06:00
medline 2011/07/29 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Painter JN Painter Jodie N JN Queensland Institute of Medical Research, Brisbane, Queensland, Australia. jodie.painter@qimr.edu.au
Nyholt DR Nyholt Dale R DR
Morris A Morris Andrew A
Zhao ZZ Zhao Zhen Z ZZ
Henders AK Henders Anjali K AK
Lambert A Lambert Ann A
Wallace L Wallace Leanne L
Martin NG Martin Nicholas G NG
Kennedy SH Kennedy Stephen H SH
Treloar SA Treloar Susan A SA
Zondervan KT Zondervan Krina T KT
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 95
ISSUE: 7
TITLE: Fertility and sterility
ISOABBREVIATION: Fertil. Steril.
YEAR: 2011
MONTH: Jun
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1556-5653
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Fertil Steril
COUNTRY: United States
ISSNLINKING: 0015-0282
NLMUNIQUEID: 0372772
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
Multicenter Study
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
076113 Wellcome Trust United Kingdom
081682 Wellcome Trust United Kingdom
084766 Wellcome Trust United Kingdom
084766 Wellcome Trust United Kingdom
085235 Wellcome Trust United Kingdom
085235 Wellcome Trust United Kingdom
085475 Wellcome Trust United Kingdom
090532 Wellcome Trust United Kingdom
R01 HD050537 NICHD NIH HHS United States
R01 HD050537-01A1 NICHD NIH HHS United States
R01 HD050537-02 NICHD NIH HHS United States
R01 HD050537-03 NICHD NIH HHS United States
R01 HD050537-04 NICHD NIH HHS United States
R01HD50537 NICHD NIH HHS United States
WT081682/Z/06/Z 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
Aryl Hydrocarbon Hydroxylases genetics
Case-Control Studies genetics
Chromosome Mapping genetics
Chromosomes, Human, Pair 10 genetics
Cytochrome P-450 CYP2C19 genetics
Endometriosis genetics
England genetics
Female genetics
Gene Frequency genetics
Genetic Association Studies genetics
Genetic Linkage genetics
Genetic Predisposition to Disease genetics
Humans genetics
Odds Ratio genetics
Phenotype genetics
Polymorphism, Single Nucleotide genetics
Queensland genetics
Risk Assessment genetics
Risk Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
EC 1.14.13.- Cytochrome P-450 CYP2C19
EC 1.14.14.1 Aryl Hydrocarbon Hydroxylases
EC 1.14.14.1 CYP2C19 protein, human
OTHER ID's
OTHERID SOURCE
NIHMS289487 NLM
PMC3125525 NLM