Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population

J Alzheimers Dis. 2014;41(4):1031-8. doi: 10.3233/JAD-140225.

Abstract

Rare non-synonymous variants of TREM2 have recently been shown to be associated with Alzheimer's disease (AD) in Caucasians. We here conducted a replication study using a well-characterized Japanese sample set, comprising 2,190 late-onset AD (LOAD) cases and 2,498 controls. We genotyped 10 non-synonymous variants (Q33X, Y38C, R47H, T66M, N68K, D87N, T96K, R98W, H157Y, and L211P) of TREM2 reported by Guerreiro et al. (2013) by means of the TaqMan and dideoxy sequencing methods. Only three variants, R47H, H157Y, and L211P, were polymorphic (range of minor allele frequency [MAF], 0.0002-0.0059); however, no significant association with LOAD was observed in these variants. Considering low MAF of variants examined and our study sample size, further genetic analysis with a larger sample set is needed to firmly evaluate whether or not TREM2 is associated with LOAD in Japanese.

Keywords: Alzheimer's disease; Japanese; SNP; TREM2; rare variants.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Asian Continental Ancestry Group / genetics
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Japan
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Receptors, Immunologic / genetics*

Substances

  • Membrane Glycoproteins
  • Receptors, Immunologic
  • TREM2 protein, human