A novel screen for nuclear mitochondrial gene associations with Parkinson's disease

J Neural Transm (Vienna). 2004 Feb;111(2):191-9. doi: 10.1007/s00702-003-0085-8. Epub 2003 Dec 12.


Genetic factors play an important role in the aetiology of Parkinson's disease (PD). We have screened nuclear genes encoding subunits of mitochondrial complex I for associations between single nucleotide polymorphisms (SNPs) and PD. Abnormal functioning of complex I is well documented in human PD. Moreover, toxicological inhibition of complex I can lead to parkinsonism in animals. Thus, commonly occurring variants in these genes could potentially influence complex I function and the risk of developing PD. A sub-set of 70 potential SNPs in 31 nuclear complex I genes were selected and association analysis was performed on 306 PD patients plus 321 unaffected control subjects. Genotyping was performed using the DASH method. There was no evidence that the examined SNPs were significant genetic risk factors for PD, although this initial screen could not exclude the possibility that other disease-influencing variations exist within these genes.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cell Nucleus / genetics
  • Chi-Square Distribution
  • Confidence Intervals
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I / genetics*
  • Female
  • Gene Frequency / genetics
  • Humans
  • Hybridization, Genetic / genetics
  • Logistic Models
  • Male
  • Middle Aged
  • Odds Ratio
  • Parkinson Disease / genetics*
  • Polymorphism, Single Nucleotide / genetics


  • DNA, Mitochondrial
  • Electron Transport Complex I