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Mol. Hum. Reprod. Advance Access originally published online on August 26, 2005
Molecular Human Reproduction 2005 11(9):641-647; doi:10.1093/molehr/gah221
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© The Author 2005. 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@oupjournals.org

Association between polymorphisms in the progesterone receptor gene and endometriosis

Susan A. Treloar1, Zhen Zhen Zhao, Trudi Armitage, David L. Duffy, Jacqueline Wicks, Daniel T. O’Connor, Nicholas G. Martin and Grant W. Montgomery

Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia

1 To whom correspondence should be addressed at: Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia. E-mail: sue.treloar{at}qimr.edu.au

The progesterone receptor (PR) is a candidate gene for the development of endometriosis, a complex disease with strong hormonal features, common in women of reproductive age. We typed the 306 base pair Alu insertion (AluIns) polymorphism in intron G of PR in 101 individuals, estimated linkage disequilibrium (LD) between five single-nucleotide polymorphisms (SNPs) across the PR locus in 980 Australian triads (endometriosis case and two parents) and used transmission disequilibrium testing (TDT) for association with endometriosis. The five SNPs showed strong pairwise LD, and the AluIns was highly correlated with proximal SNPs rs1042839 ({Delta}2 = 0.877, D9 = 1.00, P < 0.0001) and rs500760 ({Delta}2 = 0.438, D9 = 0.942, P < 0.0001). TDT showed weak evidence of allelic association between endometriosis and rs500760 (P = 0.027) but not in the expected direction. We identified a common susceptibility haplotype GGGCA across the five SNPs (P = 0.0167) in the whole sample, but likelihood ratio testing of haplotype transmission and non-transmission of the AluIns and flanking SNPs showed no significant pattern. Further, analysis of our results pooled with those from two previous studies suggested that neither the T2 allele of the AluIns nor the T1/T2 genotype was associated with endometriosis.

Key words: endometriosis/linkage disequilibrium/polymorphism/progesterone receptor/transmission disequilibrium test


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