Naslov
Effect of genes in iron metabolism on multiple sclerosis development

Autori
Starčević Čizmarević, Nada ; Lovrečić, Luca ; Ćurko-Cofek, Božena ; Barac-Latas, Vesna ; Kapović, Miljenko ; Peterlin, Borut ; Ristić, Smiljana.

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

Izvornik
European Journal of Human Genetics, Vol 24, Supplement 1 / - : Nature publishing group, 2016, 200-200

Skup
European Human Genetics Conference 2016

Mjesto i datum
Barcelona, Španjolska, 21.05.2016. - 24.05.2016

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
multiple sclerosis ; HFE ; TFRC ; TF

Sažetak
Introduction: Increased local iron concentration in brain parenchyma of multiple sclerosis (MS) patients is documented by magnetic resonance imaging, but role of iron in MS etiopathogenesis is still debated. Brain iron homeostasis is regulated by different factors, among which the transferrin and hemochromatosis proteins seem to play a key role. The aim of study was to investigate weather HFE (C282Y, H63D), TF (P570S) and transferrin receptor (TFRC-S142G) gene variants contribute to MS development. Materials and Methods: We genotyped 455 patients diagnosed with MS according to the revised McDonald criteria and 400 healthy controls from Croatia and Slovenia by PCR-RFLP or Real-time PCR method. Results: A significantly higher frequency of the C282Y carrier mutation was observed in MS patients (6.3%) than in controls (3.1%) (P=0.033). Allele and genotypes frequencies for other polymorphisms did not differ significantly (P>0.05). A three year earlier onset was found in carriers of the C282Y mutation (P=0.106), and significantly earlier onset in TF-C2 homozygotes (P=0, 016). Disease began eight year later in H63D homozygotes but statistical difference show borderline significance (P=0.056). Progression index of MS was higher in carrier of TFRC- S142G A allele also with borderline significance (P=0.051). Conclusions: Our results indicate that HFE- C282Y mutation may be risk factor to MS susceptibility. Variants C282Y and TF-C2 are possible predictors for early onset of MS, while HFE-H63D prolong disease onset. Polymorphism TFRC-S142G might have influence on disease progression. Polymorphisms in HFE, TFRC and TF genes coding for iron binding and transporting proteins might contribute to pathogenesis of MS.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

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