Association of PvuII T> C and XbaI A> G Polymorphisms of Estrogen Receptor Gene with Uterine Leiomyoma: A Case-Control Study

Background: Uterine leiomyomas (ULs) are benign tumors in the uterus that their growth and progression are stimulated by the estrogen hormone. In the current study, we aimed to determine if estrogen receptor (ER) polymorphisms could be used as the markers of the susceptibility to UL. Methods: The ER gene polymorphisms of 154 UL women and 186 controls were genotyped by PCR or PCR-RFLP methods. Results: The frequency of ESRPvuII T> C polymorphism genotypes did not differ among thewomenwith leiomyoma and controls. However, the frequency of ESR XbaI GG genotype was significantly higher than the frequency of AA genotype (27% vs 10%) in UL women and the UL risk was 4.1 folds greater in women carrying GG genotype (P < 0.0001). In the UL women, a higher frequency was observed for TG and CG haplotypes of ESR PvuII/XbaI polymorphisms compared to TA haplotype and these haplotypes showed 3.2 and 1.5 folds increases in UL risk (P = 0.003 and P = 0.04, respectively). The frequency of CA haplotype was higher in controls, and the CA haplotype might have a potential to protect against UL (P = 0.04). Conclusions: The GG genotype of XbaI A> G polymorphism and TG and CG haplotypes of PvuII T> C / XbaI A> G polymorphisms could increase the risk of UL.