A genome-wide association study of late-onset Alzheimer's disease in a Japanese population

Psychiatr Genet. 2015 Aug;25(4):139-46. doi: 10.1097/YPG.0000000000000090.


Objective: Although a number of genome-wide association studies (GWASs) of late-onset Alzheimer's disease (LOAD) have been carried out, there have been little GWAS data on East Asian populations.

Design: To discover the novel susceptibility loci of LOAD, we carried out a GWAS using 816 LOAD cases and 7992 controls with a replication analysis using an independent panel of 1011 LOAD cases and 7212 controls in a Japanese population. In addition, we carried out a stratified analysis by APOE-ε4 status to eliminate the established effect of APOE region.

Results: Our data indicated that 18p11.32 (rs1992269, P = 9.77 × 10(-7)), CNTNAP2 (rs802571, P = 1.26 × 10(-6)), and 12q24.23 (rs11613092, P = 6.85 × 10(-6)) were suggestive loci for susceptibility to LOAD.

Conclusion: We identified three suggestive loci for susceptibility to LOAD in a Japanese population. Among these, rs802571, located at intron 1 of CNTNAP2, was considered to be a plausible candidate locus from a functional perspective.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Asians / genetics*
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 18
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study / methods
  • Humans
  • Japan
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Nerve Tissue Proteins / genetics
  • Polymorphism, Single Nucleotide


  • CNTNAP2 protein, human
  • Membrane Proteins
  • Nerve Tissue Proteins