Naslov
Mutations in the hemochromatosis gene (HFE) and multiple sclerosis
(Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.)

Autori
Ristić, Smiljana ; Lovrečić, Luca ; Brajenović-Milić, Bojana ; Starčević-Čizmarević, Nada ; Šega Jazbec, Saša ; Sepčić, Juraj ; Kapović, Miljenko ; Peterlin, Borut

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human genetics / - , 2005, 232-232

Skup
European Human Genetics Conference 2005

Mjesto i datum
Prag, Češka Republika, 07.05.2005. - 10.05.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Multiple sclerosis; Hemochromatosis; HFE polymorphism; Susceptibility gene

Sažetak
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.

Izvorni jezik
Engleski

POVEZANOST RADA