To Study the Correlation of Methylenetetrahydrofolate Reductase C677T and MTR (A2756G) Gene Polymorphism in Endometriosis in Women of Reproductive Age Group.

Background: One of the typical benign gynecologic conditions in women of childbearing age is endometriosis, which can almost always lead to pelvic pain, infertility, and menstrual irregularities. The biochemical features of endometriosis focus on the folic acid and one-carbon cycle. Endometriosis cannot be diagnosed by a blood test. An important enzyme in the folate cycle is methylenetetrahydrofolate reductase (MTHFR). There are a number of variants in the MTHFR gene, but the C677T polymorphism has received the most attention and is associated with a number of diseases and problems.

Purpose: To investigate the association between MTHFR (C677T) and MTR (A2756G) gene polymorphisms and the pathogenesis of endometriosis.

Materials and methods: A total of 51 endometriosis cases and 51 healthy volunteers were genotyped for MTHFR (C677T) and MTR (A2756G) gene polymorphisms. Genotypes were determined by the polymerase chain reaction restriction fragment length polymorphism. The frequency of genotypes was analyzed by the Chi-square test and odds ratio for relative risk.

Results: The frequencies of CC, CT, and TT genotypes of MTHFR C677T were 17.65%, 54.90%, and 27.45% in cases and 64.71%, 15.69%, and 19.61% in controls, respectively. In addition, the frequencies of the C and T alleles were 46.92% and 53.08% in cases and 72.55% and 27.45% in controls, respectively. The T-allele and the CT and TT genotypes of the MTHFR C677T gene polymorphism were significantly associated with cases. No significant association with cases was observed for the MTR A2756G gene polymorphism.

Conclusion: We conclude that the MTHFR C677T polymorphism was significantly associated with endometriosis, but the MTR A2756G polymorphism was not associated with endometriosis patients.