Study on the association between SOAT1 polymorphisms, Alzheimer's disease risk and the level of CSF biomarkers

Abstract

Background: In Alzheimer's disease (AD) the beta-amyloid precursor protein is excessively cleaved into Aβ42, causing the abundant amyloid plaque loads in affected brain areas. Sterol O-acyltransferase 1 (SOAT1) has been found to regulate the production of beta-amyloid precursor protein. Methods: Wegenotyped 4 SOAT1 single nucleotide polymorphism (SNP) sites (rs2247071, rs2862616, rs3753526 and rs1044925) in 410 Finnish AD cases and 455 controls and conducted a single allele and genotypic distribution comparison as well as estimating the haplotype frequencies between cases and controls and the level of biomarkers in genotype and haplotype carriers. Results: The CC genotype of rs2247071 was overrepresented in the AD cases (OR = 1.38, 95% CI = 1.01-1.89, p = 0.043, Bonferroni corrected p = 0.172 with 4 tests) independent of gender, age and APOE ε4 allele carrier status. We did not find any significant differences between Aβ42, tau or ptau levels in different allele, genotype or haplotype carrier cases. Conclusion: Our findings suggest that SOAT1 gene may possibly be only a minor risk factor in AD. Copyright © 2007 S. Karger AG.