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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. Copyright © 2013 Elsevier Inc. All rights reserved.


Wouter van Rheenen, Frank P Diekstra, Perry T C van Doormaal, Meinie Seelen, Kevin Kenna, Russell McLaughlin, Aleksey Shatunov, David Czell, Michael A van Es, Paul W J van Vught, Philip van Damme, Bradley N Smith, Stefan Waibel, H Jurgen Schelhaas, Anneke J van der Kooi, Marianne de Visser, Markus Weber, Wim Robberecht, Orla Hardiman, Pamela J Shaw, Christopher E Shaw, Karen E Morrison, Ammar Al-Chalabi, Peter M Andersen, Albert C Ludolph, Jan H Veldink, Leonard H van den Berg. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiology of aging. 2013 May;34(5):1517.e5-7

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PMID: 23063643

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