Association of interleukin (IL)‐4 variable number of tandem repeats (VNTRs) and IL‐4‐590 promoter polymorphisms with susceptibility to pediatric autoimmune hepatitis type 1
HighlightsIL‐4 VNTR genotypes didn’t differ between AIH patients and controls.IL‐4 VNTR 2R allele distribution was significantly higher in AIH patients.IL‐4‐590 TT genotype and T alleles were significantly increased in AIH patients.Subjects with IL‐4‐590 TT genotype and T allele were more likely to develop AIH. Objective: Autoimmune hepatitis (AIH) is a chronic inflammatory liver disease mediated by an autoimmune reaction to hepatocytes, the present study aimed to assess the possible associations between interleukin‐4 (IL‐4) variable number of tandem repeats (VNTRs) and IL‐4‐590 promoter polymorphisms and susceptibility to autoimmune hepatitis type 1 in children. Subjects and methods: The study was performed on 101 children diagnosed with AIH and 104 apparently healthy, age and sex‐matched control children, diagnosis of AIH was based on the simplified score for the diagnosis of AIH. Genotyping for the IL‐4 VNTR and IL‐4‐590 were performed using PCR‐RFLP. Results: The distribution of genotype frequencies of IL‐4 gene intron 3 VNTR polymorphism were not significantly different between AIH patients and controls for 3R/2R and 2R/2R genotypes, while the 2R allele distribution was significantly higher among AIH patients than the control group. The frequency of IL‐4‐590 single nucleotide polymorphism (SNP) CT and TT genotypes was statistically higher among AIH patients than controls. Conclusion: This study revealed the presence of an association between IL‐4 ‐590 TT genotype and T alleles with increased AIH risk in pediatric patients, also assess its severity as they were detected with Child Plugh scores B and C.