Polymorphisms of hemochromatosis and transferrin genes in multiple sclerosis (CROSBI ID 547957)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa
Podaci o odgovornosti
Starčević Čizmarević, Nada ; Ristić, Smiljana ; Lovrečić, Luca ; Sepčić, Juraj ; Brajenović-Milić, Bojana ; Buretić-Tomljanović, Alena ; Kapovic, Miljenko ; Peterlin, Borut
engleski
Polymorphisms of hemochromatosis and transferrin genes in multiple sclerosis
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.
HFE gene; TF gene; iron; multiple sclerosis
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
249-250.
2009.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
European journal of human genetics
1018-4813
Podaci o skupu
European Human Genetics Conference
poster
23.05.2009-26.05.2009
Beč, Austrija