Lancet
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Apolipoprotein E (apoE) is associated with Alzheimer's neurofibrillary tangles and beta-amyloid protein in senile plaques. It also appears to play an important part in the redistribution of lipids that follows deafferentation and neurodegeneration in the brain. The gene for apoE is on chromosome 19, within the genomic region previously associated with late-onset familial Alzheimer's disease (AD). ⋯ The epsilon 4/AD association was more pronounced in women. Octogenarians with AD had an epsilon 4 allele frequency that was 3 times higher than one reported, in a different study, in healthy octogenarians. ApoE may be an important susceptibility factor in the aetiopathology of sporadic AD.
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The frequency of the allele for apolipoprotein E type 4 (epsilon 4) is increased in late-onset familial and sporadic Alzheimer's disease (AD). We have examined epsilon 4 frequencies in four distinct, normal, elderly control groups and, most importantly, in patients with amyloid-forming diseases whose epsilon 4 distributions were not previously known (Creutzfeldt-Jakob disease, familial amyloidotic polyneuropathy, Down's syndrome). There were no differences between any of these controls and published control series, cementing the relevance of epsilon 4 for late-onset AD. The increase in late-onset AD was confirmed in two new series.