Association between polymorphisms in the progesterone receptor gene and endometriosis

Susan A. Treloar, Treloar SA, Zhen Zhen Zhao, Zhen Zhao, Zhao ZZ, Armitage T, Trudi Armitage, David L. Duffy, Jacqueline Wicks, Wicks J, O'connor DT, 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
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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 Polymorphism, Single Nucleotide Receptors, Progesterone Adolescent Adolescent Adult Adult Endometriosis Endometriosis Female Female Haplotypes Haplotypes Humans Humans Linkage Disequilibrium Linkage Disequilibrium Middle Aged Middle Aged

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (55)

Cited by (33)

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