Asian Journal of Biochemistry, Genetics and Molecular Biology

Acyl-coenzyme A: cholesterol acyltransferase-1 (ACAT-1) catalyzes the synthesis of cholesteryl esters from cholesterol and fatty acyl-CoA in tissues and the enzyme plays a major role in atherosclerosis and cellular cholesterol homeostasis. The study shows the effect of single nucleotide polymorphism rs1044925 in acyl-CoA:cholesterol acyltransferase-1 gene on plasma lipid parameters in patients with ischemic stroke. 100 patients with ischemic stroke and 100 controls matched for sex and aged 46-87 were selected for the study. Lipid profiles were measured using Randox kits and lipoprotein ratios were calculated using Excel software. The genotyping of the acyl-coenzyme A: cholesterol acyltransferase-1 rs1044925 SNP were performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) combined with 2% gel electrophoresis. There were significant difference (P<0.05) in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and patients with ischemic stroke. The frequencies of AC, CC and AA genotypes of the ACAT-1 gene were 33%, 3% and 64% for the control and 57%, 5% and 38%, for the stroke subjects respectively. The frequencies of C and A alleles were 19.50% and 80.50% for the control and 33.50% and 66.50% for the ischemic stroke subjects (P < 0.0001) respectively. The effects of genotypes on plasma lipid profiles and lipoprotein ratios were found for both control and stroke subjects. The A allele carriers of ACAT-1 rs1044925 SNP had lower plasma TG, TC, VLDL-C and other lipid parameters as compared to the C allele carriers for both subjects. The C allele carriers were responsible for the increase in dyslipidemia for both subjects. The results of this study show that the polymorphism of rs1044925 in the ACAT-1 gene as effect on plasma lipid profiles and lipoprotein ratios in ischemic stroke patients.