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Table 1 SSc susceptibility genes identified by the CGA

From: Updates on genetics in systemic sclerosis

Gene Genetic polymorphism Molecular function References
PTPN22 SNP T cell receptor (TCR) signaling [14,15,16]
BANK1 SNP B cell signaling [17, 18]
CTGF SNP Fibroblast proliferation and production of extracellular matrix [19]
FAM167A-BLK SNP B cell receptor signaling and B cell development [20]
IRF5 SNP TLR-dependent type I interferon production [21, 22]
TNFAIP3 SNP Negative feedback regulation of the NF-κB pathway [26, 27]
STAT4 SNP Induction of T helper 1 cells [28]
FAS SNP Apoptosis of a wide variety of cell types [31]
TBX21 SNP T helper 1 cell differentiation [32]
TNFSF4 SNP Immune regulation [15, 33]
TNIP1 SNP Regulation of the NF-κB signaling pathway [34]
IRAK1 SNP Innate immune signaling [35]
KCNA5 SNP Potassium voltage-gated channel [36]
TNFa13 VNTR Modulator of inflammation [37]
COL1A2 VNTR Component of type I collagen [38]
NOS2 VNTR Production of a reactive free radical [39]
CD19 VNTR Regulation of B cell function [40]
IRAK1 SNP Mediator of innate immune response [41, 42]
IL-21 SNP Mediator of acquired immune response [43]
IL-2RA SNP T cell activation [43]