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In human alleles specific variation of MTHFR C677T and A1298C associated “risk factor” for the development of ovarian cancer
Anupama Singh, S. Pandey, L. K. Pandey and Ajit K. Saxena

Etiopathology of tumor biology is highly complex and ovarian cancer is one of the important gynaecological neoplasia associated with high risk of mortality rate. Methlenetetrahydrofolate reductase (MTHFR) mutation are commonly linked to folate metabolism with increased risk factor for the development of neural tube defects, recurrent pregnancy loss and development of several type of cancer but genetic interaction between two alleles of MTHFR has been poorly defined in ovarian cancer in India. Hence, present study becomes imperative with the aim to assess the alleles frequency of MTHFR (C677T & A1298C) gene polymorphism using PCR based RFLP analysis. The O.R at 95% confidence interval (C.I.) was computed between cases and their respective controls to determine “risk factor”. Interestingly, our findings reveals highly significant (p<0.001) difference in heterozygous (CT) condition of C677T allele by computing odd ratio (0.12 at 95% C.I, 0.021–0.0428; P for trend=0.001) in controls and (0.34 at 95% C.I, 0.074–1.530; P for trend=0.198) cases, suggesting that three time increase the “risk factor” for genetic susceptibility of MTHFR “T” allele for the development of ovarian carcinoma.

Keywords: Ovarian carcinoma, MTHFR gene polymorphism, C677T /A1298C allele, Folate metabolism

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