Three Coagulation Related Mutations and Increased Risk of Myoma in Women of Fars Province

Abstract

Background: Myoma is one of the most common benign tumor in the women’s genital tract and causing some implications such as miscarriages, anemia or even infertility. Since tumorigenesis is associated with a hypercoagulant state, we investigate the role of coagulation related variations in methylene-tetra hydrofolate reductase (MTHFR) and endothelial protein C receptor (EPCR) genes in patients with uterine myoma. Methods: In this case- control study, genotyping was performed for rs867186, rs1801131 and rs1801133 by amplification-refractory mutation system- polymerase chain reaction (ARMS-PCR) method in 73 patients with myoma and 73 healthy women. Data was analyzed by logistic regression and χ2 test through software SPSS 16. Results: A statistically significant difference was observed between patients and the control group regarding the frequency of allele C in the MTHFR (A1298C) gene (P = 0.01). The frequency of the genotypes carries at least one C allele (CC + AC) is higher in patients (13.7%) compared to controls (2.7%). This means the C allele increases the risk of the disease (P = 0.01). Although the frequency of the T allele in patients was higher than controls, no significant relationship was observed between it and the risk of the disease. Our studied population was completely homogeneous for allele A at EPCR locus. Conclusions: In conclusion, results revealed a significant association between A1298T variation and myoma incidence, but more research is needed to verify the role of this mutation as a genetic marker in uterine myoma.