Summary of associations with human leucocyte antigen (HLA) haplotypes in autoimmune liver disease
| Disease | Population | Haplotype | Risk ratio |
|---|---|---|---|
| NEC, northern European Caucasoid. | |||
| All studies based on adult cases unless otherwise indicated. | |||
| †Protective haplotypes and have risk values <1. | |||
| Most likely primary susceptibility/resistance alleles are highlighted in bold on each haplotype. | |||
| In primary biliary cirrhosis (PBC), the shared association with two members of the DRB1*08 family which differ by a single amino acid makes DRB1*08 the current primary candidate in this disease. However, there are many other HLA genes that have not been investigated in PBC. | |||
| In primary sclerosing cholangitis (PSC), the finding of multiple susceptibility and resistance haplotypes indicates a complex relationship with the major histocompatibility complex (MHC). The evidence indicates at least two potential MHC encoded susceptibility alleles, one of which resides in the class DR-DQ region and the other closer to the HLA B but not A locus for which MICA (MHC class I chain-like A (locus)) is the current primary candidate. | |||
| In autoimmune hepatitis (AIH), susceptibility and resistance map most strongly to the DRB1 locus. Three models, each based on alleles encoding particular amino acid sequences in the DRβ polypeptide, have been generated. Other MHC encoded genes present on the HLA8.1 and DRB1*0401 haplotypes appear to influence the disease phenotype in AIH. Risk ratio data for the whole haplotype (DRB1*0803-DQ3-DPB1*0501) in Japanese patients with PBC are not available. | |||
| PBC | Japan | DRB1*0803-DQ3-DPB1*0501 | N/A |
| NEC-Europe and NEC-USA | DRB1*0801-DQA1*0401-DQB1*0402 | 8.16 | |
| PSC | NEC-Europe | B8-MICA*008-TNFA*2-DRB3*0101-DRB1*0301-DQB1*0201 | 2.69 |
| DRB3*0101-DRB1*1301-DQA1*0103-DQB1*0603 | 3.8 | ||
| MICA*008-DRB5*0101-DRB1*1501-DQA1*0102-DQB1*0602 | 1.52 | ||
| DRB4*0103-DRB4*0401-DQA1*03-DQB1*0302† | 0.26 | ||
| DRB4*0103-DRB1*0701-DQA1*0201-DQB1*0303† | 0.15 | ||
| MICA*002† | 0.15 | ||
| AIH | NEC-Europe and NEC-USA | A1-B8-MICA*008-TNFA*2-DRB3*0101-DRB1*0301-DQB1*0201 | 4.6–5.51 |
| DRB4*0103-DRB1*0401-DQA1*0301-DQB1*0301 | 3.3–3.7 | ||
| DRB5*0101-DRB1*1501-DQA1*0102-DQB1*0602† | 0.32–0.4 | ||
| Japan | Bw54-DRB4*-DRB1*0405-DQA1*0301-DQB1*0401 | ||
| Argentina and Brazil | Adults- DRB4*0101-DRB1*0405 | 10.4 | |
| Children: DRB3*0101-DRB1*1301-DQA1*0103-DQB1*0603 | 16.3 | ||
| Children: DRB3*0101-DRB1*0301-DQA1*0501-DQB1*0201 | 3.0 | ||