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Association of mthfr gene polymorphisms c677t and a1298c with coronary artery disease

Author: 
Prasanna, P. V. V. S. L., Dr. Lakshmi, V., Devi, N. and Dr. Padhy, K.
Subject Area: 
Life Sciences
Abstract: 

Gene environment interaction is an important aspect in the development of coronary artery disease (CAD). Elevated plasma Homocysteine has been identified as a risk factor for coronary atherosclerosis. Elevated Homocysteine may result from deficient Methylenetetrahydrofolate reductase (MTHFR) activity. MTHFR is involved in one carbon metabolism which is essential for DNA biosynthesis and methylation. The 5, 10-methyltetrahydrofolate reductase locus is mapped at the end of the short arm of chromosome 1(1p36.6). Though there are several singe nucleotide polymorphisms (SNPs) in this gene, two SNPs are most studied in association with diseases. A case control study was designed to assess the role of the two most commonly studied SNPs of MTHFR gene C677T and A1298C in the development of CAD. A total of 300 samples were recruited in the study which includes 150 CAD cases from CARE hospitals, Visakhapatnam and 150 controls. The MTHFR genotyping was performed based on polymerase chain reaction followed by restriction fragment length polymorphism. There was no significant difference either in the distribution of MTHFR C677T genotypes (CC vs CT: OR=1.05, 95%CI=0.58-1.91, P=0.858; CC vs TT: OR=2.03, 95%CI=0.18-22.7, P=0.564) or alleles (T vs C: OR=0.893, 95%CI=0.522-1.530, P=0.681) in patients and controls. Even in case of the SNP A1298C no significant difference was observed in the distribution of alleles though significant difference was observed in genotype distribution (AA vs AC: OR=0.90,95%CI=0.48-1.68, p=0.74; AA vs CC: OR=1.796, 95%CI=1.06-3.02, p=0.028).

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