Genotype distribution of estrogen receptor-α gene polymorphisms in italian women with surgical uterine leiomyomas

Abstract

Objective: To explore a possible association between estrogen receptor-α (ER-α) gene polymorphisms and development of uterine leiomyomas. Design: Case–control study. Setting: University teaching hospital. Patient(s): 119 women with clinically and surgically diagnosed uterine leiomyomas. Intervention(s): Therapeutic hysterectomy. Main Outcome Measure(s): Frequency and distribution of ER-α gene polymorphisms. Result(s): No statistically significant differences between controls and patients in the allele frequency and genotype distribution were found when Pvu II and Xba I restriction polymorphism sites were analyzed separately. When the two ER-α gene polymorphisms were analyzed in combination, five major genotypes were recognized in controls or patients; the frequency differed slightly but not significantly between groups. Conclusion(s): The Pvu II and Xba I polymorphisms in the ER-α gene do not produce different risks of developing uterine leiomyomas.