Abstract
There is significant variation in reported associations of the MTHFR C677T (rs1801133) and A1298C (rs1801131) polymorphisms and coronary artery disease (CAD) in different global populations. This study aims to identify any individual or combined associations between the 1298 and 677 loci of MTHFR and CAD in a North Indian population. A total of 159 patients and 166 controls were genotyped using validated TaqMan assays. Odds ratio analysis identified associations at crude level and multiple logistic regression controlled for confounding variables. Linkage disequilibrium between the loci was assessed along with haplotype association analysis. At the C677T locus, homozygosity of the T allele identified a significantly protective association (OR = 0.38, CI: 0.24–0.60). For the A1298C locus the AC genotype had a protective effect in codominant model (OR = 0.53, CI: 0.32–0.85) and CC genotype showed a susceptible association in recessive model when controlled for age, sex and lipids (OR = 2.70, CI: 1.27–5.77). This study identified that, independently, both heterozygous genotypes show a protective association with CAD. In addition the CC genotype of A1298C in recessive model was a susceptible genotype. The combined associations of MTHFR are protective (primarily due to the effects of C677T locus) suggesting an interaction between the loci and their associations with CAD within this sample.
Highlights
Cardiovascular diseases (CVDs) are currently the world’s number one killer, causing 17.7 million deaths in 2015 and accounting for almost 31% of global deaths (World Health Organisation [WHO], 2017)
Hardy–Weinberg Equilibrium (HWE) was violated in controls for C677T locus (P < 0.001), these results should be considered with caution
The dissimilarity in allele frequencies between the patients (19%) and controls (33%) for the variant T allele, at position 677, suggests this allele may have a coronary artery disease (CAD) protective effect. This finding was further confirmed by the odds ratios (OR) and associated confidence intervals in various combinations where T allele and CT and TT genotypes are observed to be protective with OR values lower than 1
Summary
Cardiovascular diseases (CVDs) are currently the world’s number one killer, causing 17.7 million deaths in 2015 and accounting for almost 31% of global deaths (World Health Organisation [WHO], 2017). It encompasses a variety of circulatory diseases, most notably coronary artery disease (CAD), which causes approximately 7 million deaths worldwide each year (Sharma et al, 2014). Characterised by the progressive build-up of atherosclerotic plaques within the coronary arteries, the disease is a result of myocardial ischemia causing the death of cardiac muscle tissue and resulting in cardiac arrest and possible mortality. The full mechanisms for vascular damage induced by hyperhomocysteinemia still remain unclear
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