A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease

Ann Neurol. 2004 Mar;55(3):443-6. doi: 10.1002/ana.20063.

Abstract

A functional --1021C --> T polymorphism in the dopamine beta-hydroxylase gene has been demonstrated to regulate plasma DBH activity. We report that individuals with genetically determined low serum DBH activity (genotype T/T) have protection against Parkinson's disease (p = 0.01). In particular, we observed an underrepresentation of the T/T genotype odds ratio = 0.46 (CI = 0.27-0.8). Rather than identifying a haplotype, or a marker in linkage disequilibrium with the risk variant, this to our knowledge is the first report directly linking PD susceptibility with a proven functional variant.

Publication types

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

MeSH terms

  • Animals
  • Case-Control Studies
  • Chi-Square Distribution
  • Cohort Studies
  • Dopamine beta-Hydroxylase / blood
  • Dopamine beta-Hydroxylase / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Multiple System Atrophy / genetics
  • Odds Ratio
  • Pan troglodytes
  • Parkinson Disease / blood
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / physiology*
  • Threonine / genetics

Substances

  • Threonine
  • Dopamine beta-Hydroxylase