H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Publication

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Journal Paper/Review - Oct 11, 2012

van Rheenen Wouter, 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 der Kooi Anneke J, Schelhaas H Jurgen, Waibel Stefan, 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, van den Berg Leonard H

Citation

van Rheenen W, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw P, Shaw C, Morrison K, Al-Chalabi A, Andersen P, Ludolph A, Veldink J, van der Kooi A, Schelhaas H, Waibel S, Diekstra F, van Doormaal P, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es M, van Vught P, Van Damme P, Smith B, van den Berg L. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2012; 34:1517.e5-7.

Type

Journal Paper/Review (English)

Journal

Neurobiol Aging 2012; 34

Publication Date

Oct 11, 2012

Issn Electronic

1558-1497

Pages

1517.e5-7

Brief description/objective

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.