Abstract

Abstract Background We pursued to find out the possible association of Methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, blood homocysteine, vitamin B12, and folate with Coronary artery disease (CAD) in the study population in Guilan, north of Iran. Material and Methods Ninety patients with CAD and 76 healthy controls were evaluated. MTHFR A1298C polymorphism and its genotype frequency, the plasma level of homocysteine, vitamin B12 and folate were evaluated by using ARMS-PCR, ELISA, and Chemiluminescence methods, respectively. Results The frequency of genotypes, A, AC and CC in CAD were 40, 35.6, 24.4%, respectively which was significantly different (p=0.016) from the control group that were 26.3, 57.9 and 15.8%, respectively. The serum level of vitamin B12 and folate in genotype A1298C were not statistically significant between two groups (p>0.05), however, the plasma homocysteine in patients with CAD was remarkably higher than the control group (p<0.001). Additionally, in CAD patients the plasma level of homocysteine in the AC genotype was significantly higher than the control subjects (p=0.005). Conclusion It is thus concluded that MTHFR A1298C gene polymorphism is associated with CAD. It seems that the AC genotype of MTHFR A1298C polymorphism might have a protective effect on CAD.

Highlights

  • Nowadays, a lot of people have died due to cardiovascular diseases (CVDs), which is at least 9% of the deaths worldwide [1]

  • Since the limited knowledge on Methylene tetrahydrofolate reductase (MTHFR) A1298C polymorphism from Iranian Coronary artery disease (CAD) patients [10,11,12], we pursued to find out the possible association of this polymorphism, blood Homocysteine, vitamin B12, and Folate with CAD in a population from north of Iran

  • Analysis of agarose gel electrophoresis of the A1298C polymorphisms was done for the genotyping of two alleles (A/C)

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Summary

Introduction

A lot of people have died (about 18 million deaths in 2017) due to cardiovascular diseases (CVDs), which is at least 9% of the deaths worldwide [1]. CAD, a polygenic and multifactorial condition with various genetic polymorphisms, kills almost seven million people per year. This disease is originated from myocardial ischemia that leads to cardiac muscle tissue death followed by arresting cardiac and possible mortality [2]. Methylene tetrahydrofolate reductase (MTHFR) is an enzyme that plays a crucial rule in homocysteine metabolism, which produces 5-methyltetrahydrofolate This metabolite is one of the main forms of folate in the circulatory system. Since the limited knowledge on MTHFR A1298C polymorphism from Iranian CAD patients [10,11,12], we pursued to find out the possible association of this polymorphism, blood Homocysteine, vitamin B12, and Folate with CAD in a population from north of Iran

Materials and methods
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