Differential expression of progesterone receptor isoforms related to PGR+331g/a polymorphism in endometriosis: A case-control study

Background: Endometriosis are defined as a progesterone-resistance disease. Two progesterone receptor (PR) isoforms, namely PR-A and PR-B, mediate the special effects of progesterone. One of the most effective polymorphism in the promoter region of PGR is the +331G/A. Objective: The differential expression level of PR isoforms due to +331G/A polymorphism may be able to influence the function of progesterone and reduce the susceptibility of endometriosis. Materials and Methods: This analytic, case-control study was carried out at Royan Institute, Tehran, Iran. Whole-blood samples were collected from 98 infertile women undergoing laparoscopy for endometriosis and 102 healthy fertile women. After DNA extraction, genotype frequencies were determined by polymerase chain reactionrestriction fragment length polymorphism. Then, RNA was extracted from the selected eutopic tissue samples of endometriosis patients. Analysis of PR-A and PR-B mRNA expressions were performed using Real-time polymerase chain reaction. Results: The frequency distribution of GG, GA genotypes in +331G/A polymorphism was 98.04%, 1.96% in the patients and 97.96%, 2.04% in the control groups, respectively (p= 0.968). Although our data did not show any significant association with +331G/A in the patient and control groups, we were able to demonstrate significantly higher expression level of PR-B and no significant lower expression level of PR-A isoforms in patients by favoring GA to GG genotypes (p= 0.017, p= 0.731, respectively). Conclusion: Our findings show that patients with GA genotypes had a higher expression level of PR-B compared to patients with GG genotypes.