Analysis of estrogen and progesterone receptor gene polymorphisms in leiomyoma

Background Leiomyoma, one of the most common benign tumors, causes morbidity during the reproductive years in women. The molecular pathogenesis of the disease is not clear. Leiomyomas are hormone-sensitive tumors affecting around 20%-25% of women. Gene polymorphism studies could be important and explaining in the evaluation of multifactorial diseases such as leiomyoma. Polymorphisms involving genes responsible for the synthesis and signalization of steroid hormones could be used as genetic markers for hormone-related conditions. The purpose of this study was to analyze the effect of ER alpha-351 XbaI A/G, ER alpha-397 PvuII T/C, and progesterone receptor (PGR) PROGINS polymorphisms on the development of leiomyomas. Material and Methods In this study, 213 samples (103 leiomyoma patients and 110 healthy controls) participated. The ER alpha-351 XbaI A/G and ER alpha-397 PvuII T/C gene polymorphisms were analyzed using PCR-RFLP method. PGR PROGINS polymorphism was analyzed by PCR method with specific primers. Results The genotype distribution and allele frequency of the ER alpha-351 XbaI A/G, ER alpha-397 PvuII T/C, and PGR PROGINS polymorphisms were not statistically different between leiomyoma patient and control groups (p > 0.05). Conclusion This study reflects that ER alpha and PGR PROGINS polymorphisms may not be one of the many genetic factors for leiomyoma susceptibility.