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Background: MTHFR has been implicated in several diseases like breast cancer and leukemia, where the deficiency of ferric acid has been shown to increase the disease progression as it is a highly polymorphic gene. However there are very few reports of its role in coronary artery disease (CAD). Hence our aim was to genotype the CAD patients and healthy controls with a particular polymorphism at the C677T region of the gene.
Methods: After determining the biochemical and clinical parameters, we tried to correlate these parameters with the MTHFR C667T genotypes which were done by PCR-RFLP.
Results: The presence of the MTHFR C677T was significantly associated with CAD compared to healthy controls. The percentage was greater with other common risk factors such as age, sex, diabetes mellitus, hypertension, smoking in CAD patients than in the normal subjects.
Conclusion: This study investigated the role of genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) as a potential genetic marker associated with coronary artery disease.