Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease

Neurobiol Aging. 2012 Apr;33(4):836.e1-3. doi: 10.1016/j.neurobiolaging.2011.06.015. Epub 2011 Jul 27.


Histamine is a central neurotransmitter degraded by histamine-N-methyltransferase (HNMT). Several abnormalities in the histaminergic system were found in patients with Parkinson's disease (PD), thus we tested the possible association of a Thr105Ile functional polymorphism in HNMT with PD. A total of 913 patients with PD and 958 controls were genotyped using a TaqMan RT-PCR Genotyping Assay (Foster City, California, USA). Lower frequency of HNMT Ile105 allele that is associated with decreased enzymatic activity was found in patients compared with controls (χ(2) = 11.65; p = 0.0006). We performed meta-analysis to confirm the association of Thr105Ile functional polymorphism with PD. Our results indicate that lower HNMT activity plays a role in the pathogenesis of PD.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian Continental Ancestry Group
  • Case-Control Studies
  • Chi-Square Distribution
  • European Continental Ancestry Group
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Histamine N-Methyltransferase / genetics*
  • Humans
  • Isoleucine / genetics*
  • Male
  • Meta-Analysis as Topic
  • Parkinson Disease / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Threonine / genetics*


  • Isoleucine
  • Threonine
  • Histamine N-Methyltransferase