Updates on genetics in systemic sclerosis

Table 1 SSc susceptibility genes identified by the CGA

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]

ISSN: 1880-8190