TNFA GENE POLYMORPHISMS IN PEDIATRICS WITH AUTOIMMUNE HEPATITIS IN CHILDRENʼS MEDICAL CENTER

Background and Aim:Autoimmune hepatitis(AIH) is an inflammatory disease with unknown etiologies, whereas genetic and environmental factors seem to play roles in presence of disease. Tumor necrosis factor(TNF)-α seems to have an essential role in activating autoreactive effector cells and advancing the immune reaction, while their production could be affected by single nucleotide polymorphisms of the genes encoding these cytokines.Methods:This observational investigation that was performed as a case-control survey, performed on 57 pediatric patients with ALH. TNFA typing was performed by polymerase chain reaction with sequence-specific primers (PCR-SSP) assay.Results:In this study it was seen that TNFA AA and GG genotypes at position 238 were significantly overrepresented in the patient group compared to the controls (17.5% in AIH patients vs. 0.7% in controls, and 79% in AIH patients vs.57.7% in controls, respectively). Significant higher frequency of TNFA GA genotype at position 308 was also detected in AIH patient group(47.4% in patients vs 28.5% in controls).Conclusion:Totally according to the obtained result in this study, it may be concluded that TNFA single nucleotide polymorphisms are shown to have significant differences between AIH patients and healthy controls. These data could bring new insights in pathophysiology of disease, which could be translated into clinical practice if repeated in other studies.

کلیدواژه ها:

Autoimmune hepatitis ، Single nucleotide polymorphism ، Tumor necrosis factor(TNFA)