Autoimmune hepatitis association with single nucleotide polymorphism of interleukin-2, but not interferon-gamma

作者：Yousefi Azizollah; Mahmoudi Elham; Noveiry Behnoud Baradaran; Bidoki Alireza Zare; Sadr Maryam; Motamed Farzaneh; Najafi Mehri; Farahmand Fatemeh; Khodadad Ahmad; Fallahi Gholam Hossein; Rezaei Nima^*

来源：Clinics and Research in Hepatology and Gastroenterology, 2018, 42(2): 134-138.

DOI：10.1016/j.clinre.2017.06.005

• Autoimmune hepatitis
• Cytokine
• Interleukin-2
• Interferon-gamma
• Single nucleotide polymorphism

Background: Autoimmune hepatitis (AIH) is a chronic inflammation in hepatocellular tissues associated with circulating autoantibodies. Imbalance in T-cells population and dysregulation in several cytokine profiles has been implicated in pathogenesis of AIH. This study was performed to assess potential association of AIH with interleukin-2 (IL-2) and interferon-gamma (IFN-gamma) genes single nucleotide polymorphisms (SNPs).
Methods: Fifty-six patients with AIH and 139 healthy individuals were enrolled in this study. IL-2 and IFN-gamma typing was performed, using polymerase chain reaction with sequence-specific primers (PCR-SSP) assay. The frequencies of alleles, genotypes and haplotypes in AIH patients were compared to healthy controls.
Results: IL-2 T allele at position + 166 (rs2069763) showed significant higher frequency in AIH group (36%), compared to the controls (21%) (OR = 2.06; 95% CI, 1.24-3.43, P-value < 0.01). The frequency of IL-2 TT genotype at + 166 position was also associated with AIH (OR = 18.68, 95% CI 3.74-126.04, P-value < 0.01). G/T alleles of IL-2 at -330 (rs2069762) and A/T alleles on UTR 5644 position at IFN-gamma and their subsequent haplotypes, did not show significant association with AIH.
Conclusions: This study identified IL-2 T allele at + 166 position and TT genotype as susceptibility gene in AIH which would provide better understandings into the mechanisms of AIH and potential immune modulation therapies.

• 出版日期2018-4