Table 1.
Susceptibility genes in different autoimmune diseases.
| Risk locus | Function of associated gene/remarks | Reference |
|---|---|---|
| Multiple sclerosis | ||
| HLA-DRB1*1501 | Antigen presentation | (81) |
| HLA-DRB1*0301 | ||
| HLA-DQB1*0201 | ||
| IL2RA = CD25 | Mediation of IL-2 stimulation of T cells | (81) |
| CD86 | Role in costimulation, expressed on APCs | (81) |
| TNFRSF1A | Implication in TNF pathway | (81) |
| TNFRSF14 | ||
| TNFSF14 | ||
| CYP27B1 | Activation of vitamin D precursor | (81) |
| Rheumatoid arthritis | ||
| HLA-DRB1*0401 | Antigen presentation | (170, 171, 297–299) |
| HLA-DRB1*0404 | ||
| HLA-DRB1*0101 | ||
| PTPN22 | Down-regulation of T-cell activation | (168, 300) |
| IL2RA = CD25 | Mediation of IL-2 stimulation of T cells | (168) |
| CTLA-4 | Binds CD80 on APCs, inhibits T-cell activation | (168) |
| TNFAIP2 | Implication in TNF pathway | (168) |
| Type 1 diabetes | ||
| HLA-DQB1*0302 | Antigen presentation | (171, 301, 302) |
| HLA-DQ2 | ||
| HLA-DRB1*0301 | ||
| HLA-DRB1*0401 | ||
| HLA-DRB1*0404 | ||
| PTPN22 | Down-regulation of T-cell activation | (168, 303) |
| IL2RA = CD25 | Mediation of IL-2 stimulation of T cells | (168, 304) |
| CTLA-4 | Binds CD80 on APCs, inhibits T-cell activation | (168, 305) |
| interferon-induced helicase 1 (IFIH1) | Pathogen recognition receptor for viral infection | (168, 306, 307) |
| INS | Codes for insulin | (308) |
| Myasthenia gravis | ||
| HLA-B*08 | Antigen presentation, association found in early-onset MG | (169) |
| PTPN22 | Down-regulation of T-cell activation, association found in early-onset MG | (169) |
| TNIP1 (= TNFAIP3-interacting protein) | Reduction of NFκB1 activation, association found in early-onset MG | (169) |
| Neuromyelitis optica | ||
| HLA-DPB1*0501 | Antigen presentation, association in Asian, but not Caucasian NMO patients | (309, 310) |
| Autoimmune encephalitis | ||
| None reported so far | ||
Some of the major disease susceptibility genes in MS, RA, T1D, MG, NMO, and AE reveal interesting similarities.