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Mol. Hum. Reprod. Advance Access originally published online on June 11, 2007
Molecular Human Reproduction 2007 13(8):587-594; doi:10.1093/molehr/gam023
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

Susan A. Treloar1,5, Zhen Zhen Zhao2, Lien Le2, Krina T. Zondervan3, Nicholas G. Martin1, Stephen Kennedy4, Dale R. Nyholt1 and Grant W. Montgomery2

1 Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland 4029, Australia 2 Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland 4029, Australia 3 Wellcome Trust Centre for Human Genetics, Oxford OX4 1SX, UK 4 Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK

5 Correspondence address. Tel: +61-7-33620229; Fax: +61-7-33620101; E-mail: susan.treloar{at}qimr.edu.au

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.

Key words: association test/EMX2/endometriosis/polymorphism/PTEN

Submitted on January 11, 2007; resubmitted on March 4, 2007; accepted on March 8, 2007.


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Home page
 Hum Reprod UpdateHome page
G. W. Montgomery, D. R. Nyholt, Z. Z. Zhao, S. A. Treloar, J. N. Painter, S. A. Missmer, S. H. Kennedy, and K. T. Zondervan
The search for genes contributing to endometriosis risk
Hum. Reprod. Update, September 1, 2008; 14(5): 447 - 457.
[Abstract] [Full Text] [PDF]


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