Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis

Painter, J.N., Nyholt, D.R., Krause, L., Zhao, Z.Z., Chapman, B., Zhang, C., Medland, S., Martin, N.G., Kennedy, S., Treloar, S., Zondervan, K., & Montgomery, G.W. (2014) Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis. Fertility and Sterility, 102(2), pp. 496-502.

View at publisher



To follow-up previous studies highlighting a possible role for cytochrome P450, family 2, subfamily C, 19 (CYP2C19) in susceptibility to endometriosis by searching for additional variants in the CYP2C19 gene that may be associated with the disease. Design Case-control study. Setting Academic research.


The cases comprised 2,271 women with surgically confirmed endometriosis; the controls comprised 939 women with self-report of no endometriosis and 1,770 unscreened population samples.


Sequencing of the CYP2C19 region and follow-up of 80 single nucleotide polymorphisms (SNPs) in two case-control samples.

Main Outcome Measure(s)

Allele frequency differences between cases and controls.


Sequencing of the CYP2C19 gene region resulted in the detection of a large number of known and novel SNPs. Genotyping of 80 polymorphic SNPs in 901 endometriosis cases and 939 controls resulted in study-wide significant association signals for SNPs in moderate or complete linkage disequilibrium with rs4244285, a functional SNP in exon 5 that abrogates CYP2C19 function through the creation of an alternative splice site. Evidence of association was also detected for another functional SNP in the CYP2C19 promoter, rs12248560, which was highlighted in our previous study. Conclusion(s) Functional variants in CYP2C19 may contribute to endometriosis susceptibility in both familial and sporadic cases. © 2014 by American Society for Reproductive Medicine.

Impact and interest:

3 citations in Scopus
2 citations in Web of Science®
Search Google Scholar™

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

Full-text downloads:

24 since deposited on 19 May 2015
12 in the past twelve months

Full-text downloads displays the total number of times this work’s files (e.g., a PDF) have been downloaded from QUT ePrints as well as the number of downloads in the previous 365 days. The count includes downloads for all files if a work has more than one.

ID Code: 84321
Item Type: Journal Article
Refereed: Yes
Additional Information: Unmapped bibliographic data:
LA - English [Field not mapped to EPrints]
J2 - Fertil. Steril. [Field not mapped to EPrints]
C2 - 24796765 [Field not mapped to EPrints]
AD - Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia [Field not mapped to EPrints]
AD - Mater Medical Research Institute, Brisbane, QLD, Australia [Field not mapped to EPrints]
AD - Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom [Field not mapped to EPrints]
AD - Centre for Military and Veterans' Health, University of Queensland, Mayne Medical School, QLD, Australia [Field not mapped to EPrints]
AD - Genetic and Genomic Epidemiology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom [Field not mapped to EPrints]
DB - Scopus [Field not mapped to EPrints]
Keywords: association, CYP2C19, Endometriosis, pooled sequencing, rs12248560, rs4244285, cytochrome P450 2C18, cytochrome P450 2C19, adult, alternative RNA splicing, article, case control study, controlled study, endometriosis, female, follow up, gene frequency, gene linkage disequilibrium, gene sequence, genetic analysis, genetic association, genetic susceptibility, genetic variability, genotype, human, intron, major clinical study, outcome assessment, polymerase chain reaction, priority journal, promoter region, risk factor, single nucleotide polymorphism, association, CYP2C19, Endometriosis, pooled sequencing, rs12248560, rs4244285, Aryl Hydrocarbon Hydroxylases, Case-Control Studies, Endometriosis, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Heredity, Humans, Linkage Disequilibrium, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Risk Factors, RNA Splice Sites, Sequence Analysis, DNA
DOI: 10.1016/j.fertnstert.2014.04.015
ISSN: 00150282
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: © 2014 American Society for Reproductive Medicine.
Deposited On: 19 May 2015 04:21
Last Modified: 02 Oct 2015 08:25

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page