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

• Published in: Cytokine (Philadelphia, Pa.) Vol. 110; pp. 243 - 247
• Main Authors: Mansour, Amira Ibrahim, Behairy, Ola Galal, Abd Almonaem, Eman Rateb, Abd-Rabuh, Rasha Mahmoud, Ahmed, Inas Abd Elmonem
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.10.2018
• Subjects: Autoimmune hepatitis type 1; Children; Interleukin-4; Restriction Fragment Length Polymorphism (RFLP); Single Nucleotide Polymorphism (SNP); Interleukin-4; Children; Autoimmune hepatitis type 1; Restriction Fragment Length Polymorphism (RFLP); Single Nucleotide Polymorphism (SNP)
• ISSN: 1043-4666; 1096-0023; 1096-0023
• DOI: 10.1016/j.cyto.2018.01.009

•IL-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. 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. 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. 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. 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.