The role of common polymorphisms in MTHFR and EPCR genes in Uterine myoma in women from south of Iran

Uterine myomas is known as the most common benign, solid tumors in women with frequency of 20%–40% of women in their reproductive years (1). etiology of myoma is not completelyclear, however many genetics and epigenetics factors have been determined in increasing the risk of itsincidence. Since most of tumors have a coincident with thrombosis, investigation of genetics factorsthat are involved in thrombosis is necessary (2). Methylene tetrahydro folate reductase (MTHFR) is akey enzyme in the methylation of homocysteine and plays a major role in thrombosis pathway. Twopolymorphisms in MTHFR gene (rs1801131 and rs1801133) are associated with risk of thrombosis (3). The endothelial cell protein C/activated protein C receptor (EPCR) is located primarily on the surface of the large vessels and is involved in the protein C anticoagulant pathway. A SNP in nucleotide atposition 219 of EPCR gene (rs867186) is associated with increasing risk of thrombosis incident. In this study we investigated relationship between three SNPs in MTHFR and EPCR genes and myoma in women in south of Iran for the first time. Methods: We extracted DNA from peripheral blood cell from 70 women with myoma and 70 womenas a control group. We evaluated mentioned mutation by using ARMS-PCR method.Results and Discusions: we found rs1801131 mutation significantly related to myoma (P=0.01573) although two others mutations were not associated with myoma.