APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease.

Polymorphisms in the APOE promoter, ACE1 and CYP46 genes have all been reported to be associated with Alzheimer's disease (AD). We studied the relationship of these polymorphisms to the presence of AD in 86 neuropathologically confirmed cases of AD and 58 controls. In addition, we assessed the effects of these polymorphisms on the accumulation of beta-amyloid (Abeta) in the cerebral parenchyma and vasculature. No association was observed between any of the polymorphisms and the presence of AD, the parenchymal Abeta load or the severity of cerebral amyloid angiopathy (CAA). Here we report that polymorphisms within the APOE promoter, ACE1 and CYP46 gene are not risk factors for AD and are not associated with parenchymal or vascular accumulation of Abeta.