Results
| PMID | 16920727 |
| Gene Name | PGR |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | PR (+331G/A polymorphisms) |
| Population size | 307 |
| Population details | 307 (72 women with deep infiltrating endometriosis, 40 women with adenomyosis in the uterine wall, 102 gynaecological patients without symptomatic endometriosis, 93 healthy females ) |
| Sex | Female |
| Associated genes | PR |
| Other associated phenotypes |
Deep infiltrating endometriosis |
|
Hum Reprod. 2007 Jan;22(1):129-35. Epub 2006 Aug 18. van Kaam, K J A F| Romano, A| Schouten, J P| Dunselman, G A J| Groothuis, P G Research Institute GROW, University of Maastricht, The Netherlands. kvk@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. Mesh Terms: DNA Transposable Elements/genetics| Endometriosis/*genetics| Female| Gene Frequency| Humans| Polymorphism, Genetic| Receptors, Progesterone/*genetics| Risk Factors| Uterine Diseases/genetics|DA 2007/03/17 09:00 |
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