Determination of C677T polymorphism of MTHFR gene and homocysteine levels in patients with myocardial infarction

Background and Objective: Cardiovascular disease (CVD) is a huge cause of death worldwide.WHO reported CVD led to death of 17.7 million people every year. Dyslipidemia, hypertension, lack of physical activity, obesity and diabetes are common CVD risk factors. Homocysteine is an intermediate produced amino acid in the pathway for the conversion of methionine to cysteine. Methylene Tetrahydrofolate Reductase (MTHFR) enzyme catalyzes this reaction.Mutations in MTHFR gene lead to Hyperhomocystheinemia.MTHFR polymorphism could be a possible marker for Myocardial infarction (MI). In this study, we aimed to finding a association between MTHFR C677T polymorphism, levels of homocysteine with CVD in MI population of Birjand city, Southern Khorasan province, Iran. Materials and Methods: Population of study include 45 MI cases (men=30; women=15) and 45 healthy person (men=30; women=15) as control group.After the approval of the Ethics Committee Birjand university of medical sciences, data and blood was taken from study population.Genomic DNA was extracted from PBMCs with DNA isolation Kit and PCR and RFLP-PCR was done for evaluation status of the alleles. And Serum levels of homocysteine were measured by ELISAkit. Findings: The results of this research is vary in communities. The relationship between mutations and polymorphisms in Thrombophilia genes with MI, and role of these factors as pathogens in progression of the disease not completely understood. There was a significant increase in heterozygous genotype (21%) and homozygous genotype (8%) in patients with myocardial infarction compared to control group (12% and 2% respectively). Conclusion: In terms of genotype, in control group, Twelve person (26.7%) were heterozygous and 2 person (4.4%) were mutated homozygous, but this proportion was respectively, 21(7 .46%),8 (18.7%) and in the case group (p=0.004). ELISA results showed the,the mean of homocysteine level in the case group was higher than the control group and the mean homocysteine level in mutant homozygous and the heterozygous genotypes was higher than compared to those with normal genotypes.

Keywords:

Polymorphism , MTHFR gene , plasma Homocysteine , myocardial infarctio