title: Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.
abstract: In the present study we have investigated whether HFE gene polymorphism may play a role in the disease process of Croatian and Slovenian MS patients and their potential genetic susceptibility to MS. We genotyped 314 MS patients and 400 healthy controls for the C282Y and H63D mutations by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) analysis. Our results showed no significant differences in the distribution of the two mutations between MS patients and controls, suggesting that HFE polymorphisms do not contribute to the susceptibility to MS. Also, there was no significant correlation between HFE polymorphism and the disease progression index. However, we observed that MS patients carrying the mutant C282Y allele exhibited earlier onset of disease symptom relative to other genotypes, but it warrants further study in a larger series of MS patients.
authors.affiliation: Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Braće Branchetta 20, 51000 Rijeka, Croatia. smiljana.ristic@mamed.medri.hr
authors.forename: Smiljana
authors.initials: S
authors.lastname: Ristić
authors.forename: Luca
authors.initials: L
authors.lastname: Lovrecić
authors.forename: Bojana
authors.initials: B
authors.lastname: Brajenović-Milić
authors.forename: Nada
authors.initials: N
authors.lastname: Starcević-Cizmarević
authors.forename: Sasa Sega
authors.initials: SS
authors.lastname: Jazbec
authors.forename: Juraj
authors.initials: J
authors.lastname: Sepcić
authors.forename: Miljenko
authors.initials: M
authors.lastname: Kapović
authors.forename: Borut
authors.initials: B
authors.lastname: Peterlin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D016022:Case-Control Studies; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation; D012720:Severity of Illness Index; D014443:Tyrosine / Q000235:genetics
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014443:Tyrosine; D003545:Cysteine