Naslov
Polymorphisms of hemochromatosis and transferrin genes in multiple sclerosis

Autori
Starčević Čizmarević, Nada ; Ristić, Smiljana ; Lovrečić, Luca ; Sepčić, Juraj ; Brajenović-Milić, Bojana ; Buretić-Tomljanović, Alena ; Kapovic, Miljenko ; Peterlin, Borut

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

Izvornik
European Journals of Human Genetics / - , 2009, 249-250

Skup
European Human Genetics Conference

Mjesto i datum
Beč, Austrija, 23.05.2009. - 26.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
HFE gene; TF gene; iron; multiple sclerosis

Sažetak
Recent evidence has indicated a role for iron dysregulation in disease pathogenesis. Thus, we tested the hypothesis that polymorphisms in HFE (C282Y and H63D) and TF (C1 and C2) genes, and interactions among these polymorphisms, influence predisposition to and clinical presentation of multiple sclerosis (MS). Three hundred and sixty-eight MS patients and 368 healthy controls were genotyped by PCR-RFLP method. A statistical significantly higher frequency of the C282Y carrier mutation was observed in patients with secundary-progressive or relapsing-remitting MS (7.7%) than in control group (3.8%) (p=0.026). A significantly earlier age of onset was found in carriers of the C282Y mutation (p=0.035). The frequency of H63D homozygotes was higher (2.8%) in the control group than in MS patients (0.7%) and the statistical difference show borderline significance (p=0.050). We found no corelation between H63D mutation and disease behavior (p>0.05). We were unable to detect significant differences (p>0.05) in the frequencies of TF C1/C2 genotypes and alleles between MS patients and controls, and we found no differences in clinical parameters in carriers of the C2 allele. We did not observe that interactions among HFE and TF gene polymorphisms had any effect on either predisposition to MS or on disease progression (p>0.05). Our results indicate that C282Y mutation may be risk factor with respect to MS susceptibility and probably a good predictor for early onset of MS. The possible protective effects of H63D polymorphisms was less pronounced. Our investigation of the gene– gene interactions among HFE and TF indicates that they probably have no effect on MS susceptibility.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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