Abstract
Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease of iron regulation associated with iron overload and failure of several organs. Whether mutations in the hemochromatosis (HFE) gene increase cardiovascular disease risk is still undetermined. In the present study, we aimed to analyse the influence of HFE C282Y gene mutation on the risk of development of coronary artery disease (CAD) in the north Indian population.
The study included hundred CAD patients who showed presence of greater than 50% luminal stenosis in at least one major coronary artery in angiography. Genomic DNA was extracted from peripheral blood leukocytes of CAD patients using a DNA extraction kit (Gene Aid, India) following the manufacturer's protocol. The HFE C282Y gene mutation was investigated by AS-PCR.
The results showed that out of 100 CAD patients 19 patients were positive for HFE C282Y mutation and 81 patients were negative for mutation. We also evaluated HFE C282Y gene mutation frequency in CAD patients with respect to disease severity and we found there was no significant difference of mutation frequency observed with respect to disease severity in CAD patients cohort i e, those with single coronary artery or those with 2/3 coronary arteries involvement.
This study concludes that C282Y mutation plays no significant role in coronary artery disease development or its severity. Thus, there is a need to study this mutation in a large cohort of samples so as to elucidate the exact role of C282Y mutation in CAD.