Association of Progesterone Receptor Gene Polymorphism (PROGINS) and Estrogen Receptor Gene Polymorphism with Endometriosis in Korean Population / 대한산부인과학회지

ABSTRACT

OBJECTIVE: Endometriosis is defined as the presence of endometrial tissue outside the uterus, causing diverse progressive diseases such as infertility, pelvic pain, and dysmenorrhea. Although the mechanisms responsible for its pathogenesis and progression remain poorly understood, it is well established that endometriosis grows and regresses in an estrogen-dependent fashion and that administration of progestin can relieve the symptoms caused by endometriosis. Some genetic studies have demonstrated the association between the estrogen or progesterone receptor gene polymorphism and the susceptibility to endometriosis. This study was designed to investigate the associations of the polymorphism of the progesterone receptor gene (PROGINS), PvuII and XbaI polymorphism of estrogen alpha receptor gene with endometriosis in the Korean population. METHODS: A total of 100 women with surgically diagnosed and histologically confirmed endometriosis of stage III-IV were enrolled as a patient population and a total of 110 female control subjects undergoing health examination were enrolled as control population. Following isolation of genomic DNA from peripheral blood, polymerase chain reaction-sequence specific primer assays were performed for analyzing progesterone receptor gene polymorphism (PROGINS) and polymerase chain reaction-restriction fragment length polymorphism assays were performed for analyzing estrogen alpha receptor gene PvuII and XbaI polymorphism. The chi-square-test was used to compare genotype distributions between endometriosis and controls. RESULTS: Only one patient in each group was found to be T1/T2 heterozygote, and the rest of the subjects were all T1/T1 homozygotes. Analysis of PvuII has shown that the significantly lower number of patients had (pp) genotypes and (p) alleles in the endometriosis group compared with the control group (32 (32%) vs. 50 (45.5%), P<0.05; 109 (54.5%) vs. 142 (64.5%), P<0.05, respectively). There was no difference in the genotype distribution or allele frequency in XbaI polymorphism between the endometriosis group and the control group. CONCLUSION: These results suggest that the PvuII polymorphism of the estrogen receptor-alpha gene is associated with the risk for endometriosis in the Korean population.