Prevalence of the apolipoprotein E ε4 allele in amyloid b positive subjects across the spectrum of Alzheimer's disease

摘要

Introduction: Apolipoprotein E (APOE) ε4 is the major genetic risk factor for Alzheimer's disease (AD), but its prevalence is unclear because earlier studies did not require biomarker evidence of amyloid b (Ab) pathology. Methods: We included 3451 Ab1 subjects (853 AD-type dementia, 1810 mild cognitive impairment, and 788 cognitively normal). Generalized estimating equation models were used to assess APOE ε4 prevalence in relation to age, sex, education, and geographical location. Results: The APOE ε4 prevalence was 66% in AD-type dementia, 64% in mild cognitive impairment, and 51% in cognitively normal, and it decreased with advancing age in Ab1 cognitively normal and Ab1 mild cognitive impairment (P , .05) but not in Ab1 AD dementia (P 5 .66). The prevalence was highest in Northern Europe but did not vary by sex or education. Discussion: The APOE ε4 prevalence in AD was higher than that in previous studies, which did not require presence of Ab pathology. Furthermore, our results highlight disease heterogeneity related to age and geographical location.