Association study of TREM2 polymorphism rs75932628 with leucoaraiosis or Parkinson's disease in the Han Chinese population

BMJ Open. 2016 Jan 12;6(1):e009499. doi: 10.1136/bmjopen-2015-009499.

Abstract

Objectives: The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations. This study aims to assess the genetic association of the variant rs75932628-T with PD and leucoaraiosis (LA) in a Han Chinese population.

Setting: This population-based study was conducted in China by Xiamen University and its affiliated hospital.

Participants: 308 patients with LA, 342 patients with PD and 198 healthy blood donors were recruited from the First Affiliated Hospital of Xiamen University.

Outcome measures: Genotyping was performed by molecular beacon real-time PCR and Sanger sequencing.

Results: None of our participants carried the rs75932628-T mutation.

Conclusions: Our results corroborate and extend previous findings, concluding that the variant rs75932628-T (p.R47H) in TREM2 is not a risk factor for LA or PD in the Han Chinese population.

Keywords: Han Chinese population; Leukoaraiosis; p.R47H; rs75932628-T.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics
  • Alzheimer Disease / pathology*
  • Asian People / genetics*
  • China
  • Ethnicity
  • Female
  • Genotype*
  • Humans
  • Lipodystrophy / pathology
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Mutation*
  • Osteochondrodysplasias / pathology
  • Parkinson Disease* / genetics
  • Polymorphism, Genetic*
  • Real-Time Polymerase Chain Reaction
  • Receptors, Immunologic / genetics*
  • Subacute Sclerosing Panencephalitis / pathology
  • White Matter / pathology

Substances

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

Supplementary concepts

  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy