Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort

BMC Neurol. 2006 Jul 6;6:24. doi: 10.1186/1471-2377-6-24.


Background: Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD) and Parkinson diseases (PD). Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE variants with neurodegenerative diseases, such as AD and PD with conflicting results.

Methods: Genotypes were analysed for the two most common variants of HFE in a series of 130 AD, 55 Mild Cognitive Impairment (MCI) and 132 PD patients. Additionally, a series of 115 healthy age-matched controls was also screened.

Results: A statistically significant association was found in the PD group when compared to controls, showing that the presence of the C282Y variant allele may confer higher risk for developing the disease.

Conclusion: Taken together these results suggest that the common variants in HFE may be a risk factor for PD, but not for AD in the Portuguese population.

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / physiopathology
  • Brain / metabolism
  • Brain / physiopathology
  • Cognition Disorders / epidemiology
  • Cognition Disorders / genetics*
  • Cognition Disorders / physiopathology
  • Cohort Studies
  • Comorbidity
  • DNA Mutational Analysis
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genetic Variation / genetics
  • Genotype
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Iron / metabolism
  • Iron Metabolism Disorders / epidemiology
  • Iron Metabolism Disorders / genetics*
  • Iron Metabolism Disorders / physiopathology
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation / genetics
  • Parkinson Disease / epidemiology
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology
  • Portugal / epidemiology
  • Sample Size
  • Sex Distribution


  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Iron