Association between single nucleotide polymorphism rs1044925 in the acyl‐CoA:cholesterol acyltransferase‐1 gene and plasma lipid parameters in ischemic stroke subjects

Abstract

Acyl‐coenzyme A: cholesterol acyltransferase‐1 (ACAT‐1) is an intracellular enzyme that catalyzes the synthesis of cholesteryl esters from long‐chain fatty acyl‐CoA and cholesterol in various tissues and plays a major role in cellular cholesterol homeostasis and in atherosclerosis. The present study was carried out to clarify the association of ACAT‐1 rs1044925 single nucleotide polymorphism (SNP) and plasma lipid profiles and lipoproteins levels in patients with ischemic stroke. A total of 100 ischemic stroke patients and 100 controls matched for sex and aged 46–87 were selected. Plasma lipid profiles were measured and lipoprotein ratios were calculated using Excel software. Genotyping of the of the ACAT‐1 rs1044925 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism (PCR‐RFLP) combined with 2% gel electrophoresis and then confirmed by direct sequencing. There were significant difference (P<0.05) in the genotypic and allelic frequencies of ACAT‐1 rs1044925 SNP between the stroke and normolipidemic subjects. The frequencies of AA, AC and CC genotypes of the ACAT‐1 gene were 64%, 33% and 3% for the control and 38%, 57% and 5% for the stroke subjects respectively. The frequencies of A and C alleles were 80.50% and 19.50% for the control and 66.50% and 33.50% for the stroke subjects (P < 0.0001) respectively. The association of genotypes and plasma lipid profiles and lipoprotein ratios were found for both subjects. The A allele carriers had lower plasma TC, TG, VLDL‐C, ApoB levels and other lipid parameters as compared to the C allele carriers for both subjects. The C allele carriers of ACAT‐1 rs1044925 SNP were responsible for increased dyslipidemia and lipid parameters for both subjects. The results of this study suggest that the polymorphism of rs1044925 in the ACAT‐1 gene is associated with plasma lipid profiles and lipoprotein ratios in patients with ischemic stroke.