The effects of p21 gene C98A polymorphism on development of uterine leiomyoma in southeast Iranian women.

Uterine leiomyoma (UL) is a monoclonal tumor which arises from uninhibited proliferation of a single myometrial cell; therefore, the imbalance in cell cycle regulation could be a key event in its development. In the present study, we aimed to assess the association of p21 gene polymorphisms and UL. Genomic DNA was extracted from blood samples of 154 women with UL and 197 age-, BMI-, and ethnically matched controls. p21 C98A (rs1801270) and C70T (rs1059234) polymorphism genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The CA genotype of p21 C98A polymorphism was significantly higher in UL women (28 %) compared to the controls (18 %), and the UL risk was 1.8-fold greater in women with CA genotype compared to CC genotype before and after adjusting for age, BMI, and ethnicity (OR, 1.8 [95 % CI, 1.1 to 3]; P = 0.02). There was no association between the AA genotype of p21 C98A polymorphism and UL. Moreover, the frequency of p21 98A allele was significantly higher in the UL women compared to controls (17 vs. 12 %, p = 0.04). The p21 C70T polymorphism did not correlate with UL before and after adjusting for age, BMI, and ethnicity. There was no difference in haplotype frequency of p21 C70T and C98A polymorphisms between UL patients and the controls. CA genotype of p21 C98A polymorphism may be a risk factor for UL susceptibility; however, p21 C70T polymorphism did not associate with UL.