Updates on genetics in systemic sclerosis

Ota, Yuko; Kuwana, Masataka

doi:10.1186/s41232-021-00167-6

Inflammation and Regeneration

Table 2 Non-HLA SSc susceptibility genes identified by the GWAS

From: Updates on genetics in systemic sclerosis

Gene	SNP	Study type	References
Innate immunity
IRF4	rs9328192	GWAS	[42]
IRF5	rs4728142, rs10488631, rs10488631, rs3757385, rs109542313, rs2004640, rs12537284, rs2280714	GWAS	[42, 47,48,49,50, 46, 51]
IRF5-TNPO3	rs36073657, rs12155080	meta-GWAS	[52]
IRF7	rs1131665, rs4963128, rs702966	CGA, meta-GWAS	[52, 53]
IRF8	rs11642873, rs2280381, rs11117432, rs11644034, rs12711490, rs7202472, rs11117420	GWAS, meta-GWAS,	[47, 50, 53,54,55,56, 52, 57]
TNFAIP3	rs5029929, rs2230926, rs6932056	GWAS	[47, 50, 56, 58]
TNIP1	rs4958881, rs2233287, rs3792783	GWAS, meta-GWAS,	[47, 49, 52, 59]
TAP2	rs12538892, rs17500468	ImmunoChip	[51]
NFKB1	rs230534	meta-GWAS	[52]
Adaptive immune response
TNFSF4	rs4916334, rs10798269, rs12039904	GWAS	[47, 50, 60]
TNFSF4-LOC100506023-PRDX6	rs2022449, rs1857066	meta-GWAS	[52]
CD247	rs2056626	GWAS, meta-GWAS	[48, 52, 54, 61]
CSK	rs1378942	GWAS, GWAS follow-up	[47, 52, 60]
PTPN22	rs2476601	GWAS	[42]
STAT4	rs7574865, rs3821236, rs4853458, rs10168266, rs3821236	GWAS, ImmunoChip, meta-GWAS	[46, 49, 48, 50, 52, 54, 55]
BLK	rs13277113, rs2736340	GWAS	[47]
IL-12 Signaling Pathway and cytokines
IL-12A	rs7758790, rs589446	GWAS, ImmunoChip	[51, 52]
TYK2	rs2304256, rs34536443, rs12720356, rs35018800	ImmunoChip follow-up	[62]
IL-12RB1	rs436857, rs2305743, rs8109496, rs11668601	meta-GWAS	[52, 63]
IL-12RB2	rs3790566, rs924080, rs3790567	GWAS, meta-GWAS	[52, 64]
Apoptosis, Autophagy Pathway
DNASEIL3	rs35677470	ImmunoChip	[51]
FLNB-DNASE1L3-PXK	rs7355798, rs4076852	meta-GWAS	[52]
ATG5	rs9373839, rs633724	GWAS, ImmunoChip, meta-GWAS	[42, 47, 51, 52]
PRDM1	rs4134466	GWAS	[55]
GSDMA	rs3894194	GWAS	[65]
GSDMB	rs883770	meta-GWAS	[52]
NOTCH4	rs443198	GWAS	[53]
Vascular homeostasis and fibrosis
PPARG	rs310746	GWAS follow-up	[66]
Other
NAB1	rs16832798	meta-GWAS	[52]
DDX6	rs11217020	meta-GWAS	[52]
DGKQ	rs11724804	meta-GWAS	[52]
POGLUT1-TIMMDC1-CD80-ARHGAP31	rs9884090	meta-GWAS	[52]
RAB2A-CHD7	rs6598008	meta-GWAS	[52]
TSPAN32, CD81-AS1	rs2651804	meta-GWAS	[52]
NUP85-GRB2	rs1005714	meta-GWAS	[52]

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ISSN: 1880-8190

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