Table 2.
Single nucleotide polymorphisms (SNPs) outside the Major Histocompatibility Complex (MHC) associated with autoimmune hepatitis (AIH).
| SNP | Gene | Association | Population | Study |
|---|---|---|---|---|
| (-308) | TNF | AIH-1 | European | Czaja et al., 1999 [50] Cookson et al., 1999 [51] |
| (AT)8 (dinucleotide repeat) and A (exon 1) | CTLA-4/CD28 | AIH-1 | European, American | Agarwal et al., 2000 [52] Djilali-Saiah et al., 2001 [53] |
| exon 2 restriction fragment length polymorphism with Fok1 | VDR | AIH-1 | European Chinese |
Vogel et al., 2002 [56] Fan et al., 2005 [57] |
| (-670) | FAS | AIH-1 | Japanese | Hiraide et al., 2005 [59] |
| (+869) and (+915) | TGFB1 | AIH-1 | Latin Americas | Paladino et al., 2010 [60] |
| (-1993) | TBX21 | AIH-1 | Chinese | Chen et al., 2011 [61] |
| rs7574865 | STAT4 | AIH-1 | Japanese | Migita et al., 2013 [62] |
| rs3184504*A | SH2B3 | AIH-1 | European | Boer et al., 2014 [28] |
| rs6000782 | CARD10 | AIH-1 | European | Boer et al., 2014 [28] |
| rs755622 | MIF | AIH-1 | Japanese North American |
Assis et al., 2016 [66] |
| rs121741, rs1217388, rs1217407 and rs2488458 | PTPN22 | AIH-1 | Japanese | Umemura et al., 2016 [67] |
| rs4325730G | ICOS | AIH-1 | Japanese | Higuchi et al., 2017 [64] |
| rs1106594 | SH2B3 | AIH-1 | Japanese | Umemura et al., 2017 [65] |
| rs7708392 | TNIP1 | AIH-1 | Japanese | Oka et al., 2018 [69] |
| rs7708392 | TNIP1 | AIH-1 | Japanese | Oka et al., 2018 [69] |
| (-590) | IL-4 | AIH-1 | Egyptian | Mansour et al., 2018 [70] |
| deleterious variants (c.116 A > G, c.305 A > G, c.1897G > C) | TNFAIP3 | AIH-1 | Japanese | Higuchi et al., 2019 [68] |
Abbreviations: AIH, autoimmune hepatitis; SH2BP3, SH2B Adapter Protein 3; CARD10, Caspase Recruitment Domain Family Member 10; CTLA4, Cytotoxic T-Lymphocyte Antigen 4; TNF, tumor necrosis factor; VDR, vitamin D receptor; TBX21, T-Box Transcription Factor 21; ICOS, Inductible T-cell Costimulator; FAS, Fas Cell Surface Death Receptor; MIF, Macrophage Migration Inhibitory Factor; PTPN22, Protein Tyrosine Phosphatase Non-Receptor Type 22; STAT4, Signal Transducer and Activator of Transcription 4; TNFAIP3, TNF Alpha Induced Protein 3; TNIP1, TNFAIP3 Interacting Protein 1; IL-4, interleukin-4, TGFB1, transforming growth factor beta 1.