APOE ε4 allele is associated with reduced cerebrospinal fluid levels of Aβ42

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The ε4 allele of APOE is a risk factor for Alzheimer disease (AD). By analysis of a large cohort of AD patients (n = 563) and control subjects (n = 118), it is shown that the ε4 allele is strongly associated with reduced CSF levels of β-amyloid (1–42) (Aβ42) in both AD (p < 10−9) and control (p = 0.0012) populations. As no associations of APOE variants with other indexes of AD severity were observed, this effect may reflect a fundamental involvement of ApoE in Aβ metabolism.

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