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

K J A F van Kaam, Andrea Romano, A Romano, J P Schouten, G A J Dunselman, Patrick G. Groothuis, 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

mesh:D004715endometriosisadenomyosisdie_deep_infiltrating

MeSH descriptors

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

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