Table 2.
SNPs associated with autoimmune diseases and their functional effect.
| SNP | Gene | Disease association | Functional effect |
|---|---|---|---|
| rs2476601 A>G | PTPN22 | RA, SLE, T1D, GD, MG (9) | Modulation of T and B cell receptor signaling (29) |
| rs3087243 G>A | CTLA4 | RA (11), SLE (12), T1D (13) | Negative regulation of T cell activation impaired (14) |
| rs1800629 G>A | TNF | CD (19), Celiac disease (20), GD, MS (30), RA, SLE (21) | Higher levels of TNFα (6) |
| rs1799724 C>T | TNF | CD (22), ME/CFS (26), Vitiligo (24), AIH (23) | Higher levels of TNFα (24) |
| rs3807306 G>T | IRF5 | RA (16), SLE (17), MS (7), CD (18) | High serum IFNα activity (17) |
PTPN22, tyrosine-protein phosphatase non-receptor type 22; CTLA4, cytotoxic T-lymphocyte-associated protein 4; TNF, tumor necrosis factor; IRF5, interferon regulatory factor 5; AIH, autoimmune hepatitis; CD, Crohn‘s disease; GD, Grave‘s disease; MG, Myasthenia Gravis; MS, Multiple sclerosis; RA, rheumatoid arthritis; SLE, systemic lupus erythematosus; T1D, Type 1 diabetes; UC, Ulcerative colitis.