Author(s):
Guerreiro, Rita J. 
; Brás, José M. ; Santana, Isabel ; Januário, Cristina ; Santiago, Beatriz ; Morgadinho, Ana S. ; Ribeiro, Maria H. ; Hardy, John ; Singleton, Andrew ; Oliveira, Catarina
Date: 2006
Persistent ID: http://hdl.handle.net/10316/11825
Origin: Estudo Geral - Universidade de Coimbra
Description
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.
