Uticaj polimorfizma Fokl gena za vitamin D receptor i TNFa-308 gena za faktor nekroze tumora na težinu i ishod bolesti kod dece sa juvenilnim idiopatskim artritisom
Lazarević, Dragana S.
Faculty:Универзитет у Нишу, Медицински факултет
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- Превентивни, терапијски и етички приступ преклиничким и клиничким истраживањима гена и модулатора редокс ћелијске сигнализације у имунском, инфламаторном и пролиферативном одговору ћелије (MPNTR-III 41018)
Оur main objective was to investigate possible influence of tumor necrosis factor alpha (TNF-α-308) and FokI Vitamin D receptor (VDR) gene polymorphism on long term disease outcome in JIA patients treated with biologics. We have retrospectively analyzed data from our registry of JIA patients treated with biologics in whom 6 years follow-up data could be obtained and genomic deoxyribonucleic acid (DNA) extracted to test TNF-α–308 promoter and FokI VDR polymorphism. Disease activity was evaluated by ACR Pedi core set criteria for inactive disease. Among 78 JIA patients was not significant distribution difference of TNF-α-308 and FokI VDR gene polymorphism among different JIA subtypes. Patients with -308 GG (p=0,004) and GA (p=0,026) genotype achieved clinical response significantly more frequently than those with the -308 AA genotype after 36 month of follow up period. Patients with FF (p=0,006) and Ff (p=0,036) genotypes had a reduction of disease activity and more frequently reached clinical
response to biologics with respect to the ff genotype at the end of the observational period. There was no influence of distribution of the -308 TNF-α on achieving remission, but there was different distribution of FokI polymorphism on possibility to achieve remission at the end of the observational period. Patients resistant to biologics had significantly more frequent ff genotype, while those achieved remission had significantly more frequent Ff genotype (χ2=6,52, p=0,038). JIA patients carrying TNF-α-308 AA genotype and those with VDR ff genotype despite biological treatment, have lesser chance to achieve remission.View More
Keywords:Juvenilni idiopatski artritis; juvenile idiopathic arthritis; TNF-α-308 polymorphism; FokI VDR polymorphism; disease outcome; TNF-α-308 polimorfizam gena za TNF; FokI polimorfizam gena za vitamin D receptor; ishod bolesti