The Progins Progesterone Receptor Gene Polymorphism and Polymorphism of the Estrogen Receptor β Gene in Endometriosis

Objective: To determine the frequency of the PROGINS polymorphism and the estrogen receptor b gene (ERβ) +1730 G/A polymorphism in infertile women with endometriosis and fertile women. Subjects and methods: Case-control study included 50 women with endometriosis, and 24 fertile women as control. The PROGINS polymorphism and the ERβ gene + 1730 G/A polymorphism were identified by Restriction Fragment Length Polymorphism – Polymerase Chain Reaction (RFLP-PCR). Results: Genotypes A1A1, A1A2 and A2A2 (A2 representing the PROGINS polymorphism) of the progesterone receptor gene presented frequencies of 88%, 10 %and 2%, respectively, in the women with endometriosis. The allelic frequency of the PROGINS polymorphism was lower in women with endometriosis (P > 0.05) compared with healthy females in the patients with minimal/mild endometriosis (p = 0.978), 84.4 %, 12.5 % and 3.1 %, respectively, among the patients with moderate/severe endometriosis (p = 0.595); 94.4%, 5.6% and 0.0%, respectively, and 83.3%, 12.5 % and 4.2%, respectively, in the control group. Genotypes GG, GA and AA of the ERβ gene presented frequencies of 56%,34% and 10%, respectively, in the women with endometriosis (p < 0.05). In the control group; 91.8 % presented the normal homozygous genotype GG, 8.2% the GA heterozygous genotype and 0.0 % the homozygous mutated genotype AA. Conclusion: The data suggest that the estrogen receptor gene (ERβ) +1730 G/A polymorphism may be associated with risk of endometriosis. In contrast, the PROGINS polymorphism does not seem to modify the risk of developing endometriosis.