MTHFR C677T Polymorphism and Risk of Ischemic Stroke in Kashmiri Population

Nissar S Rasool R

doi:10.4172/2161-1041.1000155

Abstract

Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism as it is involved in DNA synthesis, DNA repair and DNA methylation. One of the common functional polymorphisms of MTHFR is 677 C→T which has been shown to impact various diseases, including stroke. To investigate the MTHFR C677T genotype frequency in stroke cases in the Kashmiri population, we designed a case- control study, where 70 stroke cases were studied for MTHFR C677T polymorphism against 160 controls taken from the general population employing the PCRRFLP technique. We found the frequency of the three different genotypes of MTHFR C677T in stroke case of Kashmiri population, i.e. CC, CT and TT, to be 71.4%, 17.1% and 11.4%, as compared to healthy controls, where they were 75.6%, 16.9% and 7.5%, respectively. There was no significant association between the MTHFR TT genotype and stroke. We conclude that the MTHFR C677T polymorphism is not involved in increasing the risk of stroke development in Kashmiri population.

Highlights

Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating the metabolism of folates, which are important nutrients required for both DNA synthesis as well as its methylation [1,2]
This study suggests that there is no significant correlation between the Val/Val (TT) variant of MTHFR gene and ischemic stroke in our Kashmiri population (Table 2)
A number of studies have been reported across the globe on the modulation of risk of stroke by MTHFR C677T polymorphisms, because of the fact that plasma homocysteine levels are considered a major risk factor for various vascular diseases, including stroke [28,29]

Summary

Introduction

Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating the metabolism of folates, which are important nutrients required for both DNA synthesis as well as its methylation [1,2]. MTHFR C677T polymorphism is one of the most important polymorphisms regulating the function of MTHFR enzyme. This polymorphism results in an alanine-to-valine substitution at codon 222 of the protein [4], which has a profound effect on the biological activity MTHFR enzyme. The alanine-to-valine substitution results in lower levels of 5-methyltetrahydrofolate, an accumulation of 5,10-methylenetetrahydrofolate increased plasma homocysteine levels and homocysteinuria [4,6,7,8,9]

Methods

Results

Conclusion