High and low activity alleles of catechol-O-methyltransferase gene: ethnic difference and possible association with Parkinson's disease

Neurosci Lett. 1997 Jan 17;221(2-3):202-4. doi: 10.1016/s0304-3940(96)13289-4.

Abstract

Catechol-O-methyltransferase (COMT) is an enzyme that inactivates catecholamines such as adrenaline, noradrenaline, dopamine, and levodopa. Recently an amino acid change (Val-108-Met) of the COMT protein was found to determine high and low activity alleles of the COMT gene. We genotyped 109 Japanese patients with Parkinson's disease (PD) and 153 controls by using polymerase chain reaction (PCR) amplification and digestion by the restriction enzyme NlaIII. The frequency of low activity allele in the controls was 0.29, which was significantly different from that reported in Caucasians (0.50). When comparison was made between patients with PD and controls, homozygosity for the low activity allele was significantly more common among the patients than among the controls (P = 0.017; odds ratio, 2.8, 95% CI 1.2-6.5), suggesting that homozygosity for the low activity allele may increase susceptibility to PD.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles*
  • Catechol O-Methyltransferase / genetics*
  • Ethnicity
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Japan
  • Male
  • Parkinson Disease / enzymology*
  • Parkinson Disease / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic

Substances

  • Catechol O-Methyltransferase