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

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.
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.
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.
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.