Variants in EMX2 and PTEN do not contribute to risk of endometriosis

Treloar, Susan A., Zhao, Zhen Zhen, Le, Lien, Zondervan, Krina T., Martin, Nicholas G., Kennedy, Stephen H., Nyholt, Dale R., & Montgomery, Grant W. (2007) Variants in EMX2 and PTEN do not contribute to risk of endometriosis. Molecular Human Reproduction: basic science of reproductive medicine, 13(8), pp. 587-594.

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Endometriosis has a genetic component, and significant linkage has been found to a region on chromosome 10q. Two candidate genes, EMX2 and PTEN, implicated in both endometriosis and endometrial cancer, lie on chromosome 10q. We hypothesized that variation in EMX2 and/or PTEN could contribute to the risk of endometriosis and may account for some of the linkage signal on 10q. We genotyped single nucleotide polymorphisms (SNPs) in a case-control design to evaluate association between endometriosis and common variations in these two genes. The genotyping and statistical analysis were based on samples collected from Australian volunteers. The cases were 768 unrelated women with surgically confirmed endometriosis selected from affected sister pair (ASP) families participating in the Australian Genes behind Endometriosis Study. The controls were 768 female participants in twin studies who, based on screening questions, did not have a diagnosis of endometriosis. Genotypes of 22 SNPs in the EMX2 gene and 15 SNPs in the PTEN gene were the main outcome measures. Statistical analysis provided measures of linkage disequilibrium and association. Permutation testing showed no globally significant association between any SNPs or haplotypes and endometriosis for either gene. It is unlikely that the EMX2 or PTEN gene variants investigated contribute to risk for initiation and/or development of endometriosis.

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ID Code: 92148
Item Type: Journal Article
Refereed: Yes
Keywords: Adolescent, Adult, Aged, Endometriosis/*epidemiology/genetics, Female, Genotype, Homeodomain Proteins/*genetics, Humans, Linkage Disequilibrium, Middle Aged, PTEN Phosphohydrolase/*genetics, Polymorphism, Single Nucleotide, Risk, Transcription Factors/*genetics
DOI: 10.1093/molehr/gam023
ISSN: 1360-9947
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: Copyright 2007 The Authors
Deposited On: 27 Jan 2016 22:42
Last Modified: 09 Feb 2016 01:12

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