Role of signal transducer, and activator of the transcription 4 (STAT4) gene polymorphism as predictive marker for type-1 autoimmune hepatitis

Abstract

Introduction: Autoimmune hepatitis (AIH) is one of autoimmune disorder with complex pathophysiology. Many genes involved in lethal autoimmune hepatitis disorder including STAT4 gene. The aim of this study is to determine STAT4 gene polymorphisms and relation of SNPs with disease severity among AIH patients. Method: One hundred AIH patient which diagnosed by clinically, ANA and ASMA and 100 control age matched healthy children were enrolled in this study. Patients' blood samples (5mL) were taken and split into two tubes, one tube used for immunological and clinical parameters and the second containing EDTA for PCR analysis. The first tubes were then left at room temperature for 10 minutes before being centrifuged (3500 rpm). After that, the serum was isolated the both tubes stored at -70°C until analysis, biochemical parameters were measured in full automated biochemistry analyzer while, IgG, ANA and ASMA was investigated using the enzyme-linked immunosorbent assay (ELISA) commercially available kits (Bioneer, Korea), while the STAT4 (rs7574865, rs7582694) gene was investigated using RFLP PCR How, and the commercially available kits (Bioneer, Korea).