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.
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.
Authors: Stephan Ellmann; Heinrich Sticht; Falk Thiel; Matthias W Beckmann; Reiner Strick; Pamela L Strissel Journal: Cell Mol Life Sci Date: 2009-03-31 Impact factor: 9.261
Authors: Aimee M Near; Anna H Wu; Claire Templeman; David J Van Den Berg; Jennifer A Doherty; Mary Anne Rossing; Ellen L Goode; Julie M Cunningham; Robert A Vierkant; Brooke L Fridley; Georgia Chenevix-Trench; Penelope M Webb; Susanne Krüger Kjær; Estrid Hogdall; Simon A Gayther; Susan J Ramus; Usha Menon; Aleksandra Gentry-Maharaj; Joellen M Schildkraut; Patricia G Moorman; Rachel T Palmieri; Roberta B Ness; Kirsten Moysich; Daniel W Cramer; Kathryn L Terry; Allison F Vitonis; Malcolm C Pike; Andrew Berchuck; Celeste Leigh Pearce Journal: Fertil Steril Date: 2010-08-17 Impact factor: 7.329
Authors: Marc H Schreinemacher; Walter H Backes; Jos M Slenter; Sofia Xanthoulea; Bert Delvoux; Larissa van Winden; Regina G Beets-Tan; Johannes L H Evers; Gerard A J Dunselman; Andrea Romano Journal: PLoS One Date: 2012-03-22 Impact factor: 3.240