Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
17563403
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.
DATE PUBLISHED
2007 Aug
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2007/06/11
pubmed 2007/06/15 09:00
medline 2007/11/14 09:00
entrez 2007/06/15 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Treloar SA Treloar Susan A SA 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
Zhao ZZ Zhao Zhen Zhen ZZ
Le L Le Lien L
Zondervan KT Zondervan Krina T KT
Martin NG Martin Nicholas G NG
Kennedy S Kennedy Stephen S
Nyholt DR Nyholt Dale R DR
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 13
ISSUE: 8
TITLE: Molecular human reproduction
ISOABBREVIATION: Mol. Hum. Reprod.
YEAR: 2007
MONTH: Aug
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1360-9947
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Mol Hum Reprod
COUNTRY: England
ISSNLINKING: 1360-9947
NLMUNIQUEID: 9513710
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Aged
Endometriosis genetics
Female genetics
Genotype genetics
Homeodomain Proteins genetics
Humans genetics
Linkage Disequilibrium genetics
Middle Aged genetics
PTEN Phosphohydrolase genetics
Polymorphism, Single Nucleotide genetics
Risk genetics
Transcription Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Homeodomain Proteins
0 Transcription Factors
0 empty spiracles homeobox proteins
EC 3.1.3.48 PTEN protein, human
EC 3.1.3.67 PTEN Phosphohydrolase
OTHER ID's