Association between polymorphisms in the progesterone receptor gene and endometriosis

Susan A Treloar, Zhen Zhen Zhao, Zhen Zhao, Trudi Armitage, David L Duffy, Jacqueline Wicks, Daniel T O'Connor, Daniel T. O’Connor, Nicholas G Martin, Grant W Montgomery
Molecular human reproduction · 2005 · vol. 11(9) , pp. 641–647 · doi:10.1093/molehr/gah221 · PMID:16126772 · W2116772713
article OA: bronze CC0 ⤵ 33 in-corpus citations
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This study investigated polymorphisms in the progesterone receptor gene for association with endometriosis, finding weak evidence for allelic association with SNP rs500760 and identifying a potential susceptibility haplotype GGGCA.

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Abstract

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 (delta2 = 0.877, D9 = 1.00, P < 0.0001) and rs500760 (delta2 = 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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Polymorphism, Single Nucleotide Receptors, Progesterone Adolescent Adult Endometriosis Female Haplotypes Humans Linkage Disequilibrium Middle Aged Pedigree Receptors, Progesterone

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Cited by (33)

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