association between sporadic Alzheimer's disease and the human ABCA1 and APOE gene polymorphisms in Iranian population

ABSTRACT

Apolipoprotein E [APOE], which its epsilon4 allele has been reported as a risk factor in late onset Alzheimer's disease [AD], is the main cholesterol carrier in the brain. ATP-binding cassette transporter A1 [ABCA1] gene on chromosome 9, which has been known by genome-wide AD linkage study, has an important role in cellular cholesterol efflux. This study determines the association between sporadic AD and the human ABCA1 and APOE gene polymorphisms in Iranian population. 154 AD cases and 162 control subjects from Iranian population were genotyped for APOE genotypes and ABCA1 polymorphism [R219K]. The frequency of epsilon2epsilon3 genotype was higher in control subjects comparing AD patients but was not significant [13% versus 5.8%] and epsilon3epsilon4 genotype frequency was significantly higher in AD cases comparing with control subjects. APOE-epsilon2 allele frequency in cases was lower than control subjects but this difference was not significant [4.5% versus 8%]. Individuals carrying epsilon4 allele, developed AD 6.5 times more than non-carriers [OR=6.52, 95%CI=2.63-16.17]. There was no significant association between ABCA1 polymorphism and AD. Unlike other studies, R219K polymorphism was not dependent on gender and APOE-epsilon4 allele and there was no association between APOE and ABCA1 in AD patients compared to controls