PEN2 is not a genetic risk factor for Alzheimer's disease in a large family sample.

Bertram, L; Menon, R; Mullin, K; Parkinson, M; Bradley, M L; Blacker, D; Tanzi, R E · Neurology · 2004

case_control · Level III

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Abstract

PEN2 is a reasonable Alzheimer's disease (AD) candidate gene because it is a necessary component of the gamma-secretase complex that generates beta-amyloid peptide. Moreover, its gene (PEN2) maps to a highly significant linkage region on chromosome 19q13. Four common polymorphisms in PEN2 were tested for genetic association with AD in a large and carefully ascertained AD family sample (789 subjects from 202 nuclear families) using single-locus and haplotype-based analyses. These results do not suggest PEN2 to be a major AD risk factor.

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