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H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis
H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis
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.
1517.e5-1517.e7
van Rheenen, Wouter
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Diekstra, Frank P.
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van Doormaal, Perry T.C.
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Seelen, Meinie
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Kenna, Kevin
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McLaughlin, Russell
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Shatunov, Aleksey
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Czell, David
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van Es, Michael A.
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van Vught, Paul W.J.
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van Damme, Philip
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Smith, Bradley N.
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Waibel, Stefan
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Schelhaas, H. Jurgen
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van der Kooi, Anneke J.
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de Visser, Marianne
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Weber, Markus
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Robberecht, Wim
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Hardiman, Orla
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Shaw, Pamela J.
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Shaw, Christopher E.
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Morrison, Karen E.
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Al-Chalabi, Ammar
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Andersen, Peter M.
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Ludolph, Albert C.
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Veldink, Jan H.
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van den Berg, Leonard H.
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van Rheenen, Wouter
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Diekstra, Frank P.
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van Doormaal, Perry T.C.
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Seelen, Meinie
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Kenna, Kevin
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McLaughlin, Russell
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Shatunov, Aleksey
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Czell, David
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van Es, Michael A.
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van Vught, Paul W.J.
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van Damme, Philip
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Smith, Bradley N.
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Waibel, Stefan
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Schelhaas, H. Jurgen
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van der Kooi, Anneke J.
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de Visser, Marianne
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Weber, Markus
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Robberecht, Wim
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Hardiman, Orla
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Shaw, Pamela J.
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Shaw, Christopher E.
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Morrison, Karen E.
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Al-Chalabi, Ammar
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Andersen, Peter M.
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Ludolph, Albert C.
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Veldink, Jan H.
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van den Berg, Leonard H.
bd6ed390-a56e-48d3-8273-a139bdaca4da

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. and van den Berg, Leonard H. (2013) H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiology of Aging, 34 (5), 1517.e5-1517.e7. (doi:10.1016/j.neurobiolaging.2012.07.020). (PMID:23063643)

Record type: Article

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.

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More information

Accepted/In Press date: 9 July 2012
e-pub ahead of print date: 11 October 2012
Published date: May 2013
Organisations: Medical Education

Identifiers

Local EPrints ID: 398480
URI: http://eprints.soton.ac.uk/id/eprint/398480
PURE UUID: defdaf70-9d7a-45a3-8f2d-3218eaf1d819
ORCID for Karen E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 25 Jul 2016 14:29
Last modified: 29 Oct 2019 01:34

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Contributors

Author: Wouter van Rheenen
Author: Frank P. Diekstra
Author: Perry T.C. van Doormaal
Author: Meinie Seelen
Author: Kevin Kenna
Author: Russell McLaughlin
Author: Aleksey Shatunov
Author: David Czell
Author: Michael A. van Es
Author: Paul W.J. van Vught
Author: Philip van Damme
Author: Bradley N. Smith
Author: Stefan Waibel
Author: H. Jurgen Schelhaas
Author: Anneke J. van der Kooi
Author: Marianne de Visser
Author: Markus Weber
Author: Wim Robberecht
Author: Orla Hardiman
Author: Pamela J. Shaw
Author: Christopher E. Shaw
Author: Karen E. Morrison ORCID iD
Author: Ammar Al-Chalabi
Author: Peter M. Andersen
Author: Albert C. Ludolph
Author: Jan H. Veldink
Author: Leonard H. van den Berg

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