Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.
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).
Goodall
E F
EF
Department of Clinical Neuroscience, The Medical School, University of Birmingham, Birmingham, UK.
Greenway
M J
MJ
van Marion
I
I
Carroll
C B
CB
Hardiman
O
O
Morrison
K E
KE
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D016923:Cell Death / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007494:Ireland; D007501:Iron / Q000378:metabolism; D019189:Iron Metabolism Disorders / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018384:Oxidative Stress / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D006113:United Kingdom; D044465:White People / Q000235:genetics
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron