Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees

Science. 2000 Dec 22;290(5500):2303-4. doi: 10.1126/science.290.5500.2303.

Abstract

Plasma Abeta42 (amyloid beta42 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 Abeta42, we used plasma Abeta42 as a surrogate trait and performed linkage analysis on extended AD pedigrees identified through a LOAD patient with extremely high plasma Abeta. 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 Abeta.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / blood*
  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / blood*
  • Amyloid beta-Peptides / genetics
  • Chromosomes, Human, Pair 10 / genetics*
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Peptide Fragments / blood*
  • Peptide Fragments / genetics
  • Phenotype
  • Quantitative Trait, Heritable*

Substances

  • Amyloid beta-Peptides
  • Genetic Markers
  • Peptide Fragments
  • amyloid beta-protein (1-40)
  • amyloid beta-protein (1-42)