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. Author manuscript; available in PMC: 2011 Jul 13.
Published in final edited form as: Nat Rev Rheumatol. 2010 Nov 9;6(12):683–692. doi: 10.1038/nrrheum.2010.176

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.