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