Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China

Neurobiol Aging. 2014 Oct;35(10):2422.e9-2422.e11. doi: 10.1016/j.neurobiolaging.2014.04.025. Epub 2014 May 1.

Abstract

Recently, 3 rare coding variants significantly associated with Alzheimer's disease (AD) risk have been identified in western populations using whole exome sequencing method, including p.R47H in TREM2, p.V232M in PLD3, and p.T835M in UNC5C. To examine whether these variants are genetic risk factors in patients with AD from mainland China, we sequenced exon 2 of TREM2, exon 9 of PLD3, and exon 15 of UNC5C in Chinese Han population including 360 patients with AD and 400 control individuals. As a result, none of these 3 variants were identified in all subjects, however, 1 novel variant (p.A130V) in TREM2 and 4 novel variants (p.Q860H, p.T837K, p.S843G, and p.V836V) in UNC5C were detected in unrelated patients with late-onset AD. These findings suggest the 3 rare coding variants might not play an important role in AD risk in mainland China.

Keywords: Alzheimer's disease; PLD3; Risk factor; TREM2; UNC5C.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics*
  • Asian People / genetics
  • China
  • Female
  • Genetic Association Studies*
  • Genetic Variation*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Netrin Receptors
  • Phospholipase D / genetics*
  • Receptors, Cell Surface / genetics*
  • Receptors, Immunologic / genetics*
  • Risk Factors

Substances

  • Membrane Glycoproteins
  • Netrin Receptors
  • Receptors, Cell Surface
  • Receptors, Immunologic
  • TREM2 protein, human
  • UNC5C protein, human
  • PLD3 protein, human
  • Phospholipase D