Association of GSTP1 Ile105Val gene polymorphism and uterine leiomyoma in Iranian population

Background: Uterine leiomyoma is one of the most common benign smooth muscle tumors occurring in 20-40% of women worldwide in their reproductive years. Recent studies revealed that estrogen plays an important role in the pathogenesis of uterine leiomyoma. Since, Glutathione s-transferase (GST) gene families are involved in the biosynthesis of estrogen, the prior probability that variants at this locus are associated with uterine leiomyoma is likely to be above the null. Therefore, this study was carried out to examine whether GSTP1 Ile105Val polymorphism is associated with uterine leiomyoma in Iranian population. Methods: In this case-control study, 50 women affected with uterine leiomyoma and 50 healthy controls were recruited among participants at the Pasteur Institute of Iran from November 2012 to September 2013. The genomic DNA was extracted from peripheral blood leucocytes using the standard phenol-chloroform method and subsequently the GSTP1 polymorphism was genotyped using Amplification Refractory Mutation System (ARMS-PCR). Association of Ile105Val polymorphism with uterine leiomyoma was examined using the SPSS statistical software package, version 18.0 after age adjustment. Results: The results showed significant differences between case and control groups in terms of genotype frequency (P<0.0001). In addition, the results indicated that the presence of the valine allele significantly increased risk of uterine leiomyoma approximately 3 times more in individuals carrying the mutant allele compared to control group (Odds Ratio: 3.34; 95%CI: 1.82-6.15; P<0.0001). Conclusion: To our knowledge, this is the first study performed in Iranian population assessing the association between GSTP1 Ile105Val polymorphism and risk of uterine leiomyoma. However, further extensive researches with a large number of samples from different populations and ethnicities are required to validate the results obtained in this study