title: Variants in EMX2 and PTEN do not contribute to risk of endometriosis.
abstract: 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.
authors.affiliation: Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland 4029, Australia, and Nuffield Department of Obstetrics and Gynaecology, University of Oxford, UK. susan.treloar@qimr.edu.au
authors.forename: Susan A
authors.initials: SA
authors.lastname: Treloar
authors.forename: Zhen Zhen
authors.initials: ZZ
authors.lastname: Zhao
authors.forename: Lien
authors.initials: L
authors.lastname: Le
authors.forename: Krina T
authors.initials: KT
authors.lastname: Zondervan
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
authors.forename: Stephen
authors.initials: S
authors.lastname: Kennedy
authors.forename: Dale R
authors.initials: DR
authors.lastname: Nyholt
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004715:Endometriosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D014157:Transcription Factors / Q000235:genetics*; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D018398:Homeodomain Proteins; D051059:PTEN Phosphohydrolase; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins; C494929:PTEN protein, human