ABSTRACT: Mutations in three genes PSEN1, PSEN2, and APP are known to be a cause of familial forms of Alzheimer’s disease (AD). APOE gene polymorphism is a strong risk genetic factor for AD. We have evaluated allele and genotype frequency distribution of rs11136000 polymorphism in the clusterin (CLU) gene (or apolipoprotein J, APOJ) in the samples from three Russian populations and in AD patients. Genome-wide association studies in samples from several European populations have recently revealed the highly
significant association of CLU gene with AD (p = 8.5 × 10−10). We found no differences in allele and genotype frequencies of rs11136000 between the populations from the Moscow, Ural, and Siberia regions. The allele frequencies are close to those in European
populations. The genetic association analysis in cohort of AD patients and normal individuals (>500 individuals in each group) revealed no significant association of the rs11136000 polymorphism in CLU gene with Alzheimer’s disease in Russian populations. Although our results showed that the CLU gene polymorphism rs11136000 is likely not a major genetic factor for the common form of Alzheimer’s disease, the data do not rule out the possibility
of a modest effect of CLU and interaction between CLU and APOE genotypes in etiology of Alzheimer’s disease.
Key wordsAlzheimer’s disease-association analysis-polymorphism-apolipoprotein J (APOJ)-clusterin (CLU)
Molecular Biology 04/2012; 44(4):546-551. · 0.66 Impact Factor