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Hum. Reprod. Advance Access published online on August 18, 2006
Human Reproduction, 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
Received May 7, 2006
Revised June 28, 2006
Accepted July 17, 2006

Article

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

K.J.A.F. van Kaam 1 *, A. Romano 1, J.P. Schouten 1, G.A.J. Dunselman 1, and P.G. Groothuis 1

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

* To whom correspondence should be addressed.
K.J.A.F. van Kaam, E-mail: kvk{at}sgyn.azm.nl


  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 adeno-myosis compared with healthy population controls. The PROGINS polymorphism does not seem to modify the risk of deep infiltrating endometriosis.

Keywords: +331G/A/endometriosis/progesterone receptor/PROGINS.
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C.B. Tempfer, M. Simoni, B. Destenaves, and B.C.J.M. Fauser
Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis
Hum. Reprod. Update, September 19, 2008; (2008) dmn040v1.
[Abstract] [Full Text] [PDF]


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