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APOA1 polymorphism influences risk for early-onset nonfamiliar AD

Lookup NU author(s): Dr Reinhard Heun, Dr Christopher Morris, Professor Jim Edwardson, Professor Ian McKeith, Dr Esther Jessen


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Alterations in cholesterol homeostasis influence the risk for Alzheimer's disease (AD). Apolipoprotein A1 is the major apolipoprotein of the high-density lipoprotein and is involved in reverse cholesterol transport. Variation in the apolipoprotein A1 gene (A-POA1) might influence the function of the protein, and thus brain cholesterol metabolism, leading to an increased risk for AD. Two polymorphisms of APOA1, a G/A substitution at position -75bp and a C/T and G/A base substitution at position +83bp or +84bp, or both, in the APOA1 promoter, have been described. We investigated the effect of these polymorphisms on the risk for AD in 427 AD patients and 500 healthy control subjects of German and English descent. The A allele of the APOA1 -75bp G/A polymorphism was associated with an increased risk for AD in subjects with an age at onset of 66 years or younger. Further data analysis indicated that AD patients homozygous for the A allele at position -75bp presented with disease onset 8 years earlier than carriers of at least one G allele. No influence of the + 83/84bp polymorphism on the risk for AD was observed. These results suggest that variants of APOA1 might influence the onset and the risk for AD.

Publication metadata

Author(s): Vollbach H, Heun R, Morris CM, Edwardson JA, McKeith IG, Jessen F, Schulz A, Maier W, Kolsch H

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2005

Volume: 58

Issue: 3

Pages: 436-441

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/ana.20593


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