Table 2.
SLE risk loci shared with other autoimmune diseases
Pathway | Gene | Location | Disease |
---|---|---|---|
Lymphocyte regulation
| |||
T-cell signaling | HLA class II | 6p21.3 | RA, SSc, Graves disease, IBD, T1D |
PTPN22* | 1p13 | RA, T1D, SSc, Graves disease, Crohn’s disease | |
TNFSF4 | 1q25 | SSc | |
| |||
B-cell signaling | BANK1* | 4q24 | SSc, RA |
BLK* | 8p23 | SSc, pAPS | |
Intergenic (PRDM1) | 6q21 | RA, Crohn’s disease | |
Intergenic(IKZF1) | 7p12 | Crohn’s disease | |
| |||
Innate immune regulation
| |||
TLR–IFN signaling | IRF5 | 7q32 | RA, IBD, SSc |
STAT4* | 2q33 | RA, SS, SSc | |
| |||
TNF–NFκB signaling | TNFAIP3 | 6q23 | RA, T1D, psoriasis, celiac disease |
TNIP1 | 5q33 | Psoriasis | |
| |||
Immune complex clearance
| |||
Phagocytic | FCGR2A* | 1q23 | T1D, UC |
| |||
Cytokine regulation
| |||
Anti-in3ammatory | IL10* | 1q31–q32 | UC, T1D |
These loci were identified through GWAS, GWA meta-analysis studies, candidate gene studies or replication papers.
All genetic variants at the shared loci are common across the listed diseases.
Abbreviations: GWAS, genome-wide association studies; IBD, inflammatory bowel disease; IFN, interferon; NFκB, nuclear factor κB; pAPS, primary antiphospholipid syndrome; RA, rheumatoid arthritis; SLE, systemic lupus erythematosus; SS, primary Sjögren’s syndrome; SSc, systemic sclerosis; T1D, type 1 diabetes; TLR, Toll-like receptor; TNF, tumor necrosis factor; UC, ulcerative colitis.