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

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 α (ERα) polymorphisms could be used as the markers of the susceptibility to UL.
The ERα gene polymorphisms of 154 UL women and 186 controls were genotyped by PCR or PCR-RFLP methods.
The frequency of ESRα PvuII T> C polymorphism genotypes did not differ among the women with leiomyoma and controls. However, the frequency of ESRα 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 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.