PMID |
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TITLE |
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High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19. |
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ABSTRACT |
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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. |
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DATE PUBLISHED |
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HISTORY |
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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 |
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AUTHORS |
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NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
Painter JN |
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Painter |
Jodie N |
JN |
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Queensland Institute of Medical Research, Brisbane, Queensland, Australia. jodie.painter@qimr.edu.au |
Nyholt DR |
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Nyholt |
Dale R |
DR |
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Morris A |
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Morris |
Andrew |
A |
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Zhao ZZ |
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Zhao |
Zhen Z |
ZZ |
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Henders AK |
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Henders |
Anjali K |
AK |
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Lambert A |
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Lambert |
Ann |
A |
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Wallace L |
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Wallace |
Leanne |
L |
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Martin NG |
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Martin |
Nicholas G |
NG |
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Kennedy SH |
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Kennedy |
Stephen H |
SH |
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Treloar SA |
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Treloar |
Susan A |
SA |
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Zondervan KT |
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Zondervan |
Krina T |
KT |
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Montgomery GW |
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Montgomery |
Grant W |
GW |
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INVESTIGATORS |
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JOURNAL |
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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 |
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MEDLINE JOURNAL |
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MEDLINETA: Fertil Steril |
COUNTRY: United States |
ISSNLINKING: 0015-0282 |
NLMUNIQUEID: 0372772 |
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PUBLICATION TYPE |
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PUBLICATIONTYPE TEXT |
Journal Article |
Meta-Analysis |
Multicenter Study |
Research Support, N.I.H., Extramural |
Research Support, Non-U.S. Gov't |
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COMMENTS AND CORRECTIONS |
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REFTYPE |
REFSOURCE |
REFPMID |
NOTE |
Cites |
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10202882 |
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15541453 |
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15907280 |
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16080113 |
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16413245 |
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18535005 |
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10802644 |
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Cites |
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11870102 |
|
Cites |
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11949952 |
|
Cites |
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12372440 |
|
Cites |
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12865317 |
|
Cites |
Hum Reprod. 2004 Feb;19(2):448-55 |
14747196 |
|
Cites |
Genet Epidemiol. 2004 Jul;27(1):53-63 |
15185403 |
|
Cites |
Fertil Steril. 1985 Mar;43(3):351-2 |
3979573 |
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Cites |
J Assist Reprod Genet. 1995 Jan;12(1):32-4 |
7580007 |
|
Cites |
Genet Epidemiol. 1999;16(1):40-53 |
9915566 |
|
Cites |
Am J Obstet Gynecol. 1999 Apr;180(4):945-54 |
10203663 |
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GRANTS |
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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 |
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GENERAL NOTE |
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KEYWORDS |
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MESH HEADINGS |
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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 |
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SUPPLEMENTARY MESH |
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GENE SYMBOLS |
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CHEMICALS |
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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 |
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OTHER ID's |
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OTHERID |
SOURCE |
NIHMS289487 |
NLM |
PMC3125525 |
NLM |
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