Replication of the MTHFD1L gene association with late-onset Alzheimer's disease in a Northern Han Chinese population

J Alzheimers Dis. 2012;29(3):521-5. doi: 10.3233/JAD-2011-111847.

Abstract

We conducted a replication study of the 2 genetic variants, rs11754661 and rs2073067, in MTHFD1L that have been recently reported to be associated with late-onset Alzheimer's disease (LOAD) in a genome-wide study in Caucasians. The associations were evaluated in a case-control sample comprising 1,189 Northern Han-Chinese individuals. The rs11754661 polymorphism is associated with LOAD (OR = 1.727; p = 0.016). For rs2073067, LOAD association was found only in APOEε4 carriers (OR = 0.400; p < 0.001). Haplotype analysis revealed the "AC" haplotype increased the risk of developing LOAD (OR = 1.730; p = 0.015). Our findings support a role of MTHFD1L gene in LOAD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / ethnology
  • Alzheimer Disease / genetics*
  • Aminohydrolases / genetics*
  • Apolipoprotein E4 / genetics
  • Asian People / ethnology
  • Asian People / genetics*
  • Female
  • Formate-Tetrahydrofolate Ligase / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Methylenetetrahydrofolate Dehydrogenase (NADP) / genetics*
  • Multienzyme Complexes / genetics*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Apolipoprotein E4
  • Multienzyme Complexes
  • formyl-methenyl-methylenetetrahydrofolate synthetase
  • Methylenetetrahydrofolate Dehydrogenase (NADP)
  • Aminohydrolases
  • Formate-Tetrahydrofolate Ligase