title: Mutations in the hemochromatosis gene and the clinical outcome of multiple sclerosis.
abstract: Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system unsurpassed for its variability in disease outcome. Given a possible role for dysregulation of iron metabolism in MS disease pathogenesis, we investigated whether or not mutations in the HFE gene influence the prognosis of the disease. A cohort of sporadic MS cases, taken from opposite extremes of the putative distribution of long-term outcome using the most stringent clinical criteria to date, was used to determine the role of HFE on MS disease severity. This approach increases the effective sample size by some 40-fold. Genotyping the two sets of MS patients (112 benign and 51 malignant) provided no evidence to suggest that mutations in HFE have any outcome modifying activity, although small effects cannot be ruled out. The frequency of HFE mutations was not different in MS compared to the general population.
authors.affiliation: Department of Clinical Neurology, University of Oxford, UK.
authors.forename: Sreeram V
authors.initials: SV
authors.lastname: Ramagopalan
authors.forename: Marko
authors.initials: M
authors.lastname: Cukjati
authors.forename: Maja
authors.initials: M
authors.lastname: Cernilec
authors.forename: Gabriele C
authors.initials: GC
authors.lastname: DeLuca
authors.forename: David A
authors.initials: DA
authors.lastname: Dyment
authors.forename: Alexandra
authors.initials: A
authors.lastname: Degenhardt
authors.forename: A Dessa
authors.initials: AD
authors.lastname: Sadovnick
authors.forename: Vladka Curin
authors.initials: VC
authors.lastname: Serbec
authors.forename: George C
authors.initials: GC
authors.lastname: Ebers
authors.forename: Pierre
authors.initials: P
authors.lastname: Duquette
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D017354:Point Mutation; D011379:Prognosis; D012720:Severity of Illness Index
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron