Linkage of plasma Aβ42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees

N Ertekin-Taner, N Graff-Radford, LH Younkin… - Science, 2000 - science.org
N Ertekin-Taner, N Graff-Radford, LH Younkin, C Eckman, M Baker, J Adamson, J Ronald…
Science, 2000science.org
Plasma Aβ42 (amyloid β42 peptide) is invariably elevated in early-onset familial Alzheimer's
disease (AD), and it is also increased in the first-degree relatives of patients with typical late-
onset AD (LOAD). To detect LOAD loci that increase Aβ42, we used plasma Aβ42 as a
surrogate trait and performed linkage analysis on extended AD pedigrees identified through
a LOAD patient with extremely high plasma Aβ. Here, we report linkage to chromosome 10
with a maximal lod score of 3.93 at 81 centimorgans close to D10S1225. Remarkably …
Plasma Aβ42 (amyloid β42 peptide) is invariably elevated in early-onset familial Alzheimer's disease (AD), and it is also increased in the first-degree relatives of patients with typical late-onset AD (LOAD). To detect LOAD loci that increase Aβ42, we used plasma Aβ42 as a surrogate trait and performed linkage analysis on extended AD pedigrees identified through a LOAD patient with extremely high plasma Aβ. Here, we report linkage to chromosome 10 with a maximal lod score of 3.93 at 81 centimorgans close to D10S1225. Remarkably, linkage to the same region was obtained independently in a genome-wide screen of LOAD sibling pairs. These results provide strong evidence for a novel LOAD locus on chromosome 10 that acts to increase Aβ.
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