Function |
Gene |
Replication |
Largest Size (SSc/Control) |
Reference |
Immune Regulation |
|
HLA |
yes |
1300/1000 for HLA alleles |
[8-23, 11, 12]] |
|
STAT4 |
yes |
2753/4569 |
[11, 12, 25-27] |
|
CD247 |
yes |
2753/4569 |
[11, 33] |
|
TBX21 |
replicated in a single study |
880/507 |
[27] |
T cell |
PTPN22 |
inconsistent in subtype association |
1100/740 |
[37-39] |
differentiation |
TNFSF4 |
yes |
3014/3125 |
[43, 44] |
proliferation |
IL23R |
inconsistent reports |
1402/1038 |
[48, 49] |
activation |
IL2RA |
no |
3023/2735 |
[151] |
|
IL-21 |
no |
4493/5856 |
[52] |
|
SCHIP1IL12A |
replicated in a single study |
4017/5935 |
[137] |
|
CD226 |
replicated in a single study |
991/1008 |
[55] |
B cell signaling |
BANK1 |
yes |
2380/3270 |
[57, 58] |
C8orf13-BLK |
yes |
1031/1014 |
[59-61] |
innate immunity |
PLD4 |
no |
315/21054 |
[63] |
TLR-2 |
replicated in a single study |
1170/925 |
[65] |
NLRP1 |
replicated in a single study |
1059/625 |
[70] |
ATG5 |
replicated in a single study |
4017/5935 |
[137] |
Inflammation |
interferon regulation |
IRF5 |
yes |
2753/4569 |
[11, 12, 73-75] |
IRF8 |
replicated in a single study |
3175/4971 |
[123] |
NF-κB signaling |
TNFAIP3 |
yes |
1018/1012 |
[77-79] |
IRAK1 |
inconsistent reports |
3065/2630 |
[81, 82] |
NFKB1 |
no |
5270 /8326 |
[158] |
TNIP1 |
replicated in a single study |
564/1776 |
[12] |
cytokine/chemokine |
FAS |
inconsistent genotypes |
2900/3186 |
[87, 88] |
MIF |
yes |
3800/4282 |
[89, 90] |
HGF |
no |
314/103 |
[93] |
OPN |
no |
357/864 |
[98] |
IL-6 |
no |
2749/3189 |
[153] |
CXCL8 |
no |
151/147 |
[102] |
CCR6 |
no |
2411/7084 |
[105] |
CTGF |
inconsistent reports |
500/500 |
[107-111] |
regulation of monocytes |
ITGAM |
inconsistent reports |
4337/5326 |
[114-116] |
regulation of cytokines |
CAV1 |
replicated in a single study |
791/843 |
[119] |
Transcription |
MECP2 |
replicated in a single study |
3065/2630 |
[82] |
SOX5 |
replicated in a single study |
3175/4971 |
[123] |
JAZF1 |
no |
6835/14274 |
[165] |
DNA cleavage |
DNASEIL3 |
replicated in a single study |
4017/5935 |
[137] |
XRCC1 |
no |
177 case only |
[172] |
XRCC4 |
no |
177 case only |
[172] |
Kinase activity |
PXK |
no |
6835/14274 |
[165] |
CSK |
no |
5270/8326 |
[158] |
GRB10 |
replicated in a single study |
3175/4971 |
[123] |
Cell differentiation |
NOTCH4 |
replicated in a single study |
3175/4971 |
[123] |
Cell morphogenesis |
RHOB |
replicated in a single study |
564/1776 |
[12] |
Unknown |
KIAA0319L |
no |
6835/14274 |
[165] |
PSD3 |
no |
5270/8326 |
[158] |
PSOR1C1 |
replicated in a single study |
564/1776 |
[12] |