Progesterone receptor polymorphism +331G/A is associated with a decreased risk of deep infiltrating endometriosis

van Kaam KJ, K J A F van Kaam, Andrea Romano, A. Romano, Schouten JP, J P Schouten, G A J Dunselman, Dunselman GA, Patrick G. Groothuis, Groothuis PG, P G Groothuis
Human Reproduction · 2006 · vol. 22(1) , pp. 129–135 · doi:10.1093/humrep/del325 · PMID:16920727 · W2117231961
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The +331G/A progesterone receptor gene polymorphism was found at lower frequencies in women with deep infiltrating endometriosis and adenomyosis compared to healthy controls.

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Abstract

BACKGROUND: Alterations in the progesterone receptor (PR) are considered a risk factor for the development of endometriosis. In this study, the frequencies of the PROGINS and +331G/A polymorphisms of the PR gene were determined in deep infiltrating endometriosis and correlated with the expression of the PR protein. METHODS AND RESULTS: The frequencies of the PR polymorphisms were determined in women with deep infiltrating endometriosis (n = 72), women with adenomyosis in the uterine wall (n = 40), gynaecological patients without symptomatic endometriosis (n = 102) and healthy females (n = 93). Detection of +331G/A and PROGINS polymorphisms was performed using PCR-restriction fragment length polymorphism (RFLP) analysis. Expression of PR-A and PR-B protein was assessed with immunohistochemistry. The allelic frequency of the polymorphic allele +331A was lower in women with endometriosis (P < 0.01) and adenomyosis (P < 0.02) compared with healthy females. The frequency of the PROGINS polymorphism did not differ between the groups. The mean staining index (SI) for PR-B in endometriotic epithelium was higher in the presence of the +331A polymorphic allele (n = 2) (P < 0.001) compared with +331G/G individuals (n = 61). The PROGINS polymorphism did not affect the SI for PR-A and PR-B. CONCLUSIONS: The presence of the PR gene polymorphic allele +331A is associated with a reduced risk of deep infiltrating endometriosis and adenomyosis compared with healthy population controls. The PROGINS polymorphism does not seem to modify the risk of deep infiltrating endometriosis.

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Condition tags

endometriosisadenomyosisdie_deep_infiltrating

MeSH descriptors

Endometriosis Receptors, Progesterone DNA Transposable Elements DNA Transposable Elements DNA Transposable Elements Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Humans Humans Polymorphism, Genetic Polymorphism, Genetic Receptors, Progesterone Receptors, Progesterone Risk Factors Risk Factors Uterine Diseases

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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 ]

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Cited by (40)

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