High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19

Painter, Jodie N., Nyholt, Dale R., Morris, Andrew, Zhao, Zhen Z., Henders, Anjali K., Lambert, Ann, Wallace, Leanne, Martin, Nicholas G., Kennedy, Stephen H., Treloar, Susan A., Zondervan, Krina T., & Montgomery, Grant W. (2011) High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19. Fertility and Sterility, 95(7), pp. 2236-2240.

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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.


Case-control study.


Academic research.


Cases=3,223 women with surgically confirmed endometriosis; controls=1,190 women without endometriosis and 7,060 population samples.


Analysis of 11,984 single nucleotide polymorphisms on chromosome 10.


Allele frequency differences between cases and controls.


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.


The role of the CYP2C19 gene in conferring risk for endometriosis warrants further investigation.

Impact and interest:

18 citations in Scopus
12 citations in Web of Science®
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ID Code: 91912
Item Type: Journal Article
Refereed: Yes
Keywords: Aryl Hydrocarbon Hydroxylases/*genetics, Case-Control Studies, *Chromosome Mapping, *Chromosomes, Human, Pair 10, Cytochrome P-450 CYP2C19, Endometriosis/enzymology/*genetics, England, Female, Gene Frequency, Genetic Association Studies, *Genetic Linkage, Genetic Predisposition to Disease, Humans, Odds Ratio, Phenotype, *Polymorphism, Single Nucleotide, Queensland, Risk Assessment, Risk Factors
DOI: 10.1016/j.fertnstert.2011.03.062
ISSN: 1556-5653
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 14 Jan 2016 23:57
Last Modified: 18 Jan 2016 05:18

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