Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.

E. F. Goodall; M. J. Greenway; Marion I van; C. B. Carroll; O. Hardiman; K. E. Morrison

doi:10.1212/01.wnl.0000176032.94434.d4

Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.

E. F. Goodall, M. J. Greenway, Marion I van, C. B. Carroll, O. Hardiman, K. E. Morrison^*

^*Corresponding author for this work

Peninsula Medical School

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

Abstract

Iron misregulation promotes oxidative stress and abnormally high iron levels have been found in the spinal cords of patients with ALS. The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls). They found that the H63D polymorphism is overrepresented in individuals with sporadic ALS (odds ratio 1.85, CI: 1.35 to 2.54).

Original language	English
Pages (from-to)	934-937
Number of pages	0
Journal	Neurology
Volume	65
Issue number	6
DOIs	https://doi.org/10.1212/01.wnl.0000176032.94434.d4
Publication status	Published - 27 Sept 2005

Keywords

Adult
Aged
80 and over
Amino Acid Substitution
Amyotrophic Lateral Sclerosis
Cell Death
DNA Mutational Analysis
Female
Gene Frequency
Genetic Predisposition to Disease
Genetic Testing
Hemochromatosis Protein
Histocompatibility Antigens Class I
Humans
Ireland
Iron
Iron Metabolism Disorders
Male
Membrane Proteins
Middle Aged
Motor Neurons
Mutation
Nerve Degeneration
Oxidative Stress
Polymorphism
Genetic
United Kingdom
White People

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title = "Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.",

abstract = "Iron misregulation promotes oxidative stress and abnormally high iron levels have been found in the spinal cords of patients with ALS. The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls). They found that the H63D polymorphism is overrepresented in individuals with sporadic ALS (odds ratio 1.85, CI: 1.35 to 2.54).",

keywords = "Adult, Aged, 80 and over, Amino Acid Substitution, Amyotrophic Lateral Sclerosis, Cell Death, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Hemochromatosis Protein, Histocompatibility Antigens Class I, Humans, Ireland, Iron, Iron Metabolism Disorders, Male, Membrane Proteins, Middle Aged, Motor Neurons, Mutation, Nerve Degeneration, Oxidative Stress, Polymorphism, Genetic, United Kingdom, White People",

author = "Goodall, {E. F.} and Greenway, {M. J.} and van, {Marion I} and Carroll, {C. B.} and O. Hardiman and Morrison, {K. E.}",

year = "2005",

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doi = "10.1212/01.wnl.0000176032.94434.d4",

language = "English",

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journal = "Neurology",

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T1 - Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.

AU - Goodall, E. F.

AU - Greenway, M. J.

AU - van, Marion I

AU - Carroll, C. B.

AU - Hardiman, O.

AU - Morrison, K. E.

PY - 2005/9/27

Y1 - 2005/9/27

N2 - Iron misregulation promotes oxidative stress and abnormally high iron levels have been found in the spinal cords of patients with ALS. The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls). They found that the H63D polymorphism is overrepresented in individuals with sporadic ALS (odds ratio 1.85, CI: 1.35 to 2.54).

AB - Iron misregulation promotes oxidative stress and abnormally high iron levels have been found in the spinal cords of patients with ALS. The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls). They found that the H63D polymorphism is overrepresented in individuals with sporadic ALS (odds ratio 1.85, CI: 1.35 to 2.54).

KW - Adult

KW - Aged

KW - 80 and over

KW - Amino Acid Substitution

KW - Amyotrophic Lateral Sclerosis

KW - Cell Death

KW - DNA Mutational Analysis

KW - Female

KW - Gene Frequency

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Hemochromatosis Protein

KW - Histocompatibility Antigens Class I

KW - Humans

KW - Ireland

KW - Iron

KW - Iron Metabolism Disorders

KW - Male

KW - Membrane Proteins

KW - Middle Aged

KW - Motor Neurons

KW - Mutation

KW - Nerve Degeneration

KW - Oxidative Stress

KW - Polymorphism

KW - Genetic

KW - United Kingdom

KW - White People

U2 - 10.1212/01.wnl.0000176032.94434.d4

DO - 10.1212/01.wnl.0000176032.94434.d4

M3 - Article

SN - 0028-3878

VL - 65

SP - 934

EP - 937

JO - Neurology

JF - Neurology

IS - 6

ER -

Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.

Abstract

Keywords

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