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

Objective: To explore a possible association between estrogen receptor-alpha (ER-alpha) 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-alpha 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-alpha 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-alpha gene do not produce different risks of developing uterine leiomyomas. (C) 2001 by American Society for Reproductive Medicine.