Mutations in the hemochromatosis gene (HFE) and multiple sclerosis

• DOI: 10.1016/j.neulet.2005.04.045
• Publication Date: 2005-04-30T11:22:07Z
• Authors: Smiljana Ristić; Luca Lovrečić; Bojana Brajenović...; Nada Starčević-Či...; Saša Šega Jazbec; Juraj Sepčić; Miljenko Kapović; Borut Peterlin
• Keywords: Adult; Male; 0301 basic medicine; Analysis of Variance; Multiple Sclerosis; Adolescent; Genotype; DNA Mutational Analysis; Histocompatibility Antigens Class I; Membrane Proteins; Middle Aged; Severity of Illness Index; 03 medical and health sciences; Gene Frequency; Multiple sclerosis; Hemochromatosis; HFE polymorphism; Susceptibility gene; Case-Control Studies; Mutation; Humans; Female; Cysteine; Hemochromatosis; Hemochromatosis Protein; multiple sclerosis; hemochromatosis; HFE polymorphism; susceptibility gene; Aged

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.