Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke.
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the iron overload disorder of hereditary hemochromatosis (C282Y, H63D and S65C) were evaluated as factors in sporadic AD in an Ontario sample in which folic acid fortification has been mandatory since 1998.
To determine whether a genetic predisposition to iron accumulation is associated with AD, we evaluated three hemochromatosis-associated HFE mutations and APOE in cognitively and histopathologically evaluated subjects with AD, mild cognitive impairment (MCI), non-demented controls with AD-like pathologic changes defined by Braak stage > or = 3 (high pathology controls (HPC)), and non-demented controls without significant histologic changes (low-pathology controls (LPC)).