Author/Editor | Ristić, Smiljana; Lovrecic, Luca; Brajenović-Milić, Bojana; Starčević-Čizmarević, Nada; Šega-Jazbec, Saša; Sepčić, Juraj; Kapović, Miljenko; Peterlin, Borut | |
Title | Mutations in the hemochromatosis gene (HFE) and multiple sclerosis | |
Type | članek | |
Source | Neurosci Lett | |
Vol. and No. | Letnik 383 | |
Publication year | 2005 | |
Volume | str. 301-4 | |
Language | eng | |
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. | |
Descriptors | MULTIPLE SCLEROSIS MUTATION MEMBRANE PROTEINS HISTOCOMPATIBILITY ANTIGENS CLASS I HEMOCHROMATOSIS AGE FACTORS SEX FACTORS ANALYSIS OF VARIANCE CASE-CONTROL STUDIES SEVERITY OF ILLNESS INDEX TYROSINE GENOTYPE GENE FREQUENCY DNA MUTATIONAL ANALYSIS CYSTEINE |