title: Prevalence of haemochromatosis gene mutations in Parkinson's disease.
abstract: The aim of this study was to investigate a possible association between haemochromatosis (HFE) gene mutations and the prevalence of Parkinson's disease. The HFE gene encodes a protein that modulates iron absorption. Several studies have documented increased iron levels in the basal ganglia in patients with Parkinson's disease. In a study on patients with concurrent hereditary haemochromatosis and Parkinson's disease, abnormal deposition of iron in the basal ganglia was suggested as an inductor of Parkinson's disease. In this study, genotype frequencies of the HFE mutations C282Y, H63D and S65C were estimated in 388 patients with Parkinson's disease and compared with frequencies found in comparable studies. No significant differences were found in frequencies between the patients and comparable populations. This study does not indicate increased susceptibility to Parkinson's disease in HFE gene mutation carriers in Norway.
authors.affiliation: Department of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway. anne.hege.aamodt@ntnu.no
authors.forename: Anne Hege
authors.initials: AH
authors.lastname: Aamodt
authors.forename: Lars Jacob
authors.initials: LJ
authors.lastname: Stovner
authors.forename: Ketil
authors.initials: K
authors.lastname: Thorstensen
authors.forename: Stian
authors.initials: S
authors.lastname: Lydersen
authors.forename: Linda R
authors.initials: LR
authors.lastname: White
authors.forename: Jan O
authors.initials: JO
authors.lastname: Aasly
mesh_terms: D001479:Basal Ganglia / Q000378:metabolism; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009664:Norway / Q000453:epidemiology; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D015995:Prevalence
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron