Association of a polymorphism in the dopamine-transporter gene with Parkinson's disease

Mov Disord. 1997 Sep;12(5):760-3. doi: 10.1002/mds.870120523.

Abstract

The presynaptic dopamine transporter in nigral dopaminergic neurons confers susceptibility to the cytotoxic effects of the neurotoxic metabolite of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Polymorphisms in the dopamine transporter might influence the susceptibility to such toxins. Therefore, we investigated whether a polymorphic region in the 3'-untranslated region of the dopamine-transporter gene is associated with idiopathic Parkinson's disease (PD). The frequency distribution of the alleles was significantly different between the patients (n = 100) and controls (n = 200, p < 0.05). The rare 11-copy allele was more common in the patients (odds ratio = 10.2, 95% confidence interval - 1.2-87.9, p < 0.025). The susceptibility of some people to PD may be conferred by polymorphisms in the dopamine-transporter gene that could lead to increased cellular accumulation of neurotoxic compounds in dopaminergic neurons.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Alleles
  • Carrier Proteins / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • Confidence Intervals
  • Disease Susceptibility
  • Dopamine Plasma Membrane Transport Proteins
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Membrane Glycoproteins*
  • Membrane Transport Proteins*
  • Nerve Tissue Proteins*
  • Odds Ratio
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Repetitive Sequences, Nucleic Acid / physiology

Substances

  • Carrier Proteins
  • Dopamine Plasma Membrane Transport Proteins
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins