Association between acyl-coenzyme A: cholesterol acyltransferase gene and risk for Alzheimer's disease in Chinese

There is a compelling body of evidence indicating an association between cholesterol and Alzheimer's disease (AD). Acyl-coenzyme A: cholesterol acyltransferase 1 (ACAT1), an endoplasmic-reticulum-resident enzyme that catalyses the formation of cholesteryl esters (CEs) from cholesterol and long-chain fatty acids, modulates the generation of beta amyloid peptide (Aβ). A single nucleotide polymorphism rs1044925 in the sterol O-acyltransferase 1 (SOAT1), the gene encoding ACAT1, has been reported to be association with an increased risk for sporadic AD (SAD) in European population. In the present study, we examined the association of the SOAT1 rs1044925 polymorphism with SAD in our northern Han-Chinese (107 cases, 118 age and gender-matched controls) sample using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. There was no genotypic (χ2 = 0.030, OR 0.942, 95% CI = 0.478-1.857) or allelic (χ2 = 0.021, OR 0.955, 95% CI = 0.508-1.794) association between SAD and controls, even when the data were stratified by APOEɛ4 carrier status. Our results indicate that the polymorphism rs1044925 in the 3′UTR of SOAT1 gene does not affect the risk of SAD in the northern Han-Chinese.