H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Abstract The H63D polymorphism in HFE has frequently been associated with susceptibility to amyotrophic lateral sclerosis (ALS). Regarding the role of HFE in iron homeostasis, iron accumulation is considered an important process in ALS. Furthermore, novel therapeutic strategies are being developed t...

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Published in:Neurobiology of aging 2013-05, Vol.34 (5), p.1517.e5-1517.e7
Main Authors: van Rheenen, Wouter, Diekstra, Frank P, van Doormaal, Perry T.C, Seelen, Meinie, Kenna, Kevin, McLaughlin, Russell, Shatunov, Aleksey, Czell, David, van Es, Michael A, van Vught, Paul W.J, van Damme, Philip, Smith, Bradley N, Waibel, Stefan, Schelhaas, H. Jurgen, van der Kooi, Anneke J, de Visser, Marianne, Weber, Markus, Robberecht, Wim, Hardiman, Orla, Shaw, Pamela J, Shaw, Christopher E, Morrison, Karen E, Al-Chalabi, Ammar, Andersen, Peter M, Ludolph, Albert C, Veldink, Jan H, van den Berg, Leonard H
Format: Article
Language:English
Subjects:
Adult
Aged
Aging
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS)
Amyotrophic Lateral Sclerosis - epidemiology
Amyotrophic Lateral Sclerosis - genetics
Europe - epidemiology
Female
Genetic Markers - genetics
Genetic Predisposition to Disease - epidemiology
Genetic Predisposition to Disease - genetics
H63D
Hemochromatosis Protein
HFE
Histocompatibility Antigens Class I - genetics
Homeostasis
Humans
Internal Medicine
Iron
Male
Membrane Proteins - genetics
Middle Aged
Motor neuron disease (MND)
Nervous system
Neurology
Polymorphism, Single Nucleotide - genetics
Prevalence
Reviews
Risk Factors
rs1799945
Survival
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Summary:Abstract The H63D polymorphism in HFE has frequently been associated with susceptibility to amyotrophic lateral sclerosis (ALS). Regarding the role of HFE in iron homeostasis, iron accumulation is considered an important process in ALS. Furthermore, novel therapeutic strategies are being developed targeting this process. Evidence for this genetic association is, however, limited to several small studies. For this reason we studied the H63D polymorphism in a large European cohort including 3962 ALS patients and 5072 control subjects from 7 countries. After meta-analysis of previous studies and current findings we conclude that the H63D polymorphism in HFE is not associated with susceptibility to ALS, age at disease onset, or survival.
ISSN:0197-4580
1558-1497
1558-1497
DOI:10.1016/j.neurobiolaging.2012.07.020