H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

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; Karen Morrison

doi:10.1016/j.neurobiolaging.2012.07.020

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

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 ShawChristopher E Shaw, Karen E Morrison, Ammar Al-Chalabi, Peter M Andersen, Albert C Ludolph, Jan H Veldink, Leonard H van den Berg, Karen Morrison

Clinical Sciences

Research output: Contribution to journal › Article › peer-review

22 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1517.e5-7
Journal	Neurobiology of Aging
Volume	34
Issue number	5
DOIs	https://doi.org/10.1016/j.neurobiolaging.2012.07.020
Publication status	Published - May 2013

Bibliographical note

Keywords

Adult
Aged
Amyotrophic Lateral Sclerosis
Europe
Female
Genetic Markers
Genetic Predisposition to Disease
Histocompatibility Antigens Class I
Humans
Male
Membrane Proteins
Middle Aged
Polymorphism, Single Nucleotide
Prevalence
Risk Factors

Access to Document

10.1016/j.neurobiolaging.2012.07.020

Cite this

van Rheenen, W., Diekstra, F. P., van Doormaal, P. T. C., Seelen, M., Kenna, K., McLaughlin, R., Shatunov, A., Czell, D., van Es, M. A., van Vught, P. W. J., van Damme, P., Smith, B. N., Waibel, S., Schelhaas, H. J., van der Kooi, A. J., de Visser, M., Weber, M., Robberecht, W., Hardiman, O., ... Morrison, K. (2013). H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiology of Aging, 34(5), 1517.e5-7. https://doi.org/10.1016/j.neurobiolaging.2012.07.020

@article{136a56a11bc341caaadab71e184b0dc1,

title = "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 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.",

keywords = "Adult, Aged, Amyotrophic Lateral Sclerosis, Europe, Female, Genetic Markers, Genetic Predisposition to Disease, Histocompatibility Antigens Class I, Humans, Male, Membrane Proteins, Middle Aged, Polymorphism, Single Nucleotide, Prevalence, Risk Factors",

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

year = "2013",

month = may,

doi = "10.1016/j.neurobiolaging.2012.07.020",

language = "English",

volume = "34",

pages = "1517.e5--7",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier",

number = "5",

}

van Rheenen, W, Diekstra, FP, van Doormaal, PTC, Seelen, M, Kenna, K, McLaughlin, R, Shatunov, A, Czell, D, van Es, MA, van Vught, PWJ, van Damme, P, Smith, BN, Waibel, S, Schelhaas, HJ, van der Kooi, AJ, de Visser, M, Weber, M, Robberecht, W, Hardiman, O, Shaw, PJ, Shaw, CE, Morrison, KE, Al-Chalabi, A, Andersen, PM, Ludolph, AC, Veldink, JH, van den Berg, LH & Morrison, K 2013, 'H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis', Neurobiology of Aging, vol. 34, no. 5, pp. 1517.e5-7. https://doi.org/10.1016/j.neurobiolaging.2012.07.020

TY - JOUR

T1 - H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

AU - van Rheenen, Wouter

AU - Diekstra, Frank P

AU - van Doormaal, Perry T C

AU - Seelen, Meinie

AU - Kenna, Kevin

AU - McLaughlin, Russell

AU - Shatunov, Aleksey

AU - Czell, David

AU - van Es, Michael A

AU - van Vught, Paul W J

AU - van Damme, Philip

AU - Smith, Bradley N

AU - Waibel, Stefan

AU - Schelhaas, H Jurgen

AU - van der Kooi, Anneke J

AU - de Visser, Marianne

AU - Weber, Markus

AU - Robberecht, Wim

AU - Hardiman, Orla

AU - Shaw, Pamela J

AU - Shaw, Christopher E

AU - Morrison, Karen E

AU - Al-Chalabi, Ammar

AU - Andersen, Peter M

AU - Ludolph, Albert C

AU - Veldink, Jan H

AU - van den Berg, Leonard H

AU - Morrison, Karen

PY - 2013/5

Y1 - 2013/5

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - Amyotrophic Lateral Sclerosis

KW - Europe

KW - Female

KW - Genetic Markers

KW - Genetic Predisposition to Disease

KW - Histocompatibility Antigens Class I

KW - Humans

KW - Male

KW - Membrane Proteins

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

KW - Prevalence

KW - Risk Factors

U2 - 10.1016/j.neurobiolaging.2012.07.020

DO - 10.1016/j.neurobiolaging.2012.07.020

M3 - Article

C2 - 23063643

SN - 0197-4580

VL - 34

SP - 1517.e5-7

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 5

ER -

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Abstract

Bibliographical note

Keywords

Access to Document

Fingerprint

Cite this