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Hum. Reprod. Advance Access originally published online on August 18, 2006
Human Reproduction 2007 22(1):129-135; doi:10.1093/humrep/del325
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© The Author 2006. 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@oxfordjournals.org

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

K.J.A.F. van Kaam1,2,3, A. Romano1,2, J.P. Schouten1,2, G.A.J. Dunselman1,2 and P.G. Groothuis1,2

1 Research Institute GROW, University of Maastricht and 2 Department of Obstetrics and Gynaecology, University Hospital Maastricht, Maastricht, The Netherlands

3 To whom correspondence should be addressed at: Research Institute GROW, University of Maastricht, Maastricht, The Netherlands. E-mail: kvk{at}sgyn.azm.nl

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.

Key words: +331G/A/endometriosis/progesterone receptor/PROGINS


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