The following loci have evidence of association with SLE, as
evidenced by Published GWASs (genetic associations with a P value < 5e-8,
tested in a total sample size of >=1000 individuals). |
|
|
Please cite
[Lingyan Chen, David L Morris, and Timothy J Vyse. "Genetic advances in
systemic lupus erythematosus: an update". Current opinion in
rheumatology (2017)] when making use of these data. |
No. |
Risk Region |
Lead SNP in Publication |
Position (Build 37) |
Risk allele |
dbSNP Function |
Locus Gene |
eGene |
Population |
References (PUBMEDID) |
|
|
|
|
|
1 |
1p36.11 |
rs4649203 |
24519920 |
G |
intergenic |
IL28RA |
|
Chinese |
24070858 |
|
|
|
|
|
2 |
1p13.2 |
rs2476601 |
114377568 |
A |
missense |
PTPN22 |
BCL2L15, DCLRE1B, MAGI3 |
American and European |
19838195, 26502338 |
|
|
|
|
|
3 |
1q23.3 |
rs1801274 |
161479745 |
C |
missense |
FCGR2A |
FCGR2A, FCGR2B |
European |
26502338 |
|
|
|
|
|
4 |
1q25.1 |
rs1234315 |
173178463 |
A |
intergenic |
TNFSF4 |
|
Asian and European |
19838193, 22820624 |
|
|
|
|
|
rs2205960 |
173191475 |
T |
intergenic |
Asian, European-American, African-American and Hispanic |
19838193, 19838195, 22820624, 23874208 |
|
|
|
|
|
rs704840 |
173226195 |
G |
intergenic |
European |
26502338 |
|
|
|
|
|
rs1418190 |
173361979 |
G |
intergenic |
Chinese |
25890262 |
|
|
|
|
|
rs4916219 |
173373183 |
A |
intergenic |
Chinese |
25890262 |
|
|
|
|
|
5 |
1q25.3 |
rs17849502 |
183532580 |
T |
missense |
NCF2 |
|
European-American, African-American, Hispanic and Korean |
24163247 |
|
|
|
|
|
rs35937854 |
183536089 |
G |
missense |
European-American, African-American, Hispanic and Korean |
24163247 |
|
|
|
|
|
rs10911363 |
183549757 |
T |
intron |
UK, American and Swedish |
22046141 |
|
|
|
|
|
rs10911628 |
184649503 |
NA |
intergenic |
EDEM3 |
|
European |
24871463 |
|
|
|
|
|
6 |
1q31.3 |
rs34889541 |
198594769 |
G |
intergenic |
CD45 |
|
Chinese and European |
27399966 |
|
|
|
|
|
7 |
1q32.1 |
rs2297550 |
206643772 |
G |
5'-UTR |
IKBKE |
IKBKE |
Chinese and European |
27399966 |
|
|
|
|
|
rs3024505 |
206939904 |
A |
intergenic |
IL10 |
FCAMR, IL10, IL24 |
American and European |
19838195, 26502338 |
|
|
|
|
|
8 |
1q42.3 |
rs9782955 |
236039877 |
C |
intron |
LYST |
LYST |
European |
26502338 |
|
|
|
|
|
9 |
2p23.1 |
rs7579944 |
30445026 |
C |
intergenic |
LBH |
LBH |
Chinese and European |
27399966 |
|
|
|
|
|
rs17321999 |
30479857 |
C |
intron |
Chinese and European |
27399966 |
|
|
|
|
|
10 |
2p22.3 |
rs13385731 |
33701890 |
G |
intron |
RASGRP3 |
|
Chinese |
19838193 |
|
|
|
|
|
11 |
2p14 |
rs6740462 |
65667272 |
A |
intron |
SPRED2 |
SPRED2 |
European |
26502338 |
|
|
|
|
|
12 |
2p13.1 |
rs4852324 |
74202578 |
T |
intron |
DGUOK-TET3 |
|
Asian |
23273568 |
|
|
|
|
|
rs6705628 |
74208362 |
C |
non coding |
Asian |
23273568 |
|
|
|
|
|
13 |
2q24.2 |
rs2111485 |
163110536 |
G |
intergenic |
IFIH1 |
IFIH1 |
European |
26502338 |
|
|
|
|
|
rs10930046 |
163137983 |
G |
missense |
African and European |
23441136 |
|
|
|
|
|
14 |
2q32.3 |
rs3821236 |
191902758 |
NA |
intron |
STAT4 |
|
Korean |
23740238 |
|
|
|
|
|
rs7601754 |
191940451 |
NA |
intron |
Asian |
19225526 |
|
|
|
|
|
rs11889341 |
191943742 |
T |
intron |
European |
26502338 |
|
|
|
|
|
rs10931481 |
191954852 |
T |
intron |
European |
23053960 |
|
|
|
|
|
rs6736175 |
191946322 |
C |
intron |
European |
26502338 |
|
|
|
|
|
15 |
2q34 |
rs3768792 |
213871709 |
C |
3'-UTR |
IKZF2 |
IKZF2 |
European |
26502338 |
|
|
|
|
|
16 |
3p14.3 |
rs6445972 |
58321707 |
C |
intron |
ABHD6-PXK |
ABHD6, PXK, RPP14, PDHB |
European Americans, African Americans, Asian Americans and Hispanic Americans |
25620976 |
|
|
|
|
|
rs6445975 |
58370177 |
C |
intron |
European |
18204446 |
|
|
|
|
|
rs9311676 |
58470351 |
C |
intergenic |
European |
26502338 |
|
|
|
|
|
17 |
3q13.33 |
rs1132200 |
119150836 |
G |
missense |
TMEM39A |
|
European, African American and Asian |
22464253, 25890262 |
|
|
|
|
|
rs1131265 |
119222456 |
G |
synonymous |
European |
in press |
|
|
|
|
|
rs6804441 |
119260944 |
A |
intron |
CD80 |
|
Asian |
23273568 |
|
|
|
|
|
rs2222631 |
119272391 |
G |
intron |
Asian |
25862617 |
|
|
|
|
|
18 |
3q25.33 |
rs564799 |
159728987 |
C |
intron |
IL12A |
IL12A, IFT80, SMC4, RP11-432B6.3 |
European |
26502338 |
|
|
|
|
|
19 |
3q26.2 |
rs10936599 |
169492101 |
C |
synonymous |
MYNN |
|
Asian and European |
28108556 |
|
|
|
|
|
20 |
3q28 |
rs6762714 |
188470238 |
T |
intron |
LPP-TPRG1-AS1 |
|
Chinese and European |
27399966 |
|
|
|
|
|
21 |
4p16 |
rs4690229 |
970724 |
T |
3'-UTR |
DGKQ |
|
European |
In press |
|
|
|
|
|
22 |
4q21.3 |
rs340630 |
87958395 |
A |
intron |
AFF1 |
|
Japanese |
22291604 |
|
|
|
|
|
23 |
4q24 |
rs10028805 |
102737250 |
G |
intron |
BANK1 |
BANK1 |
European |
26502338 |
|
|
|
|
|
rs17266594 |
102750922 |
C |
intron |
Chinese |
19357697 |
|
|
|
|
|
24 |
4q27 |
rs907715 |
123535053 |
G |
intron |
IL21 |
|
European and African American |
21425124 |
|
|
|
|
|
25 |
5p15.33 |
rs7726159 |
1282319 |
A |
intron |
TERT |
|
Asian |
26808113 |
|
|
|
|
|
26 |
5q31.1 |
rs7726414 |
133431834 |
T |
intergenic |
TCF7-SKP1 |
TCF7, SKP1 |
European and Asian |
26502338, 26808113 |
|
|
|
|
|
27 |
5q33.1 |
rs7708392 |
150457485 |
C |
intron |
TNIP1 |
|
American and Swedish |
19838195 |
|
|
|
|
|
28 |
5q33.3 |
rs2421184 |
159459931 |
A |
intron |
IL12B |
|
Asian |
26808113 |
|
|
|
|
|
rs2431697 |
159879978 |
A |
intergenic |
PTTG1-MIR146A |
MIR146A |
Chinese and European |
25890262, 26502338 |
|
|
|
|
|
rs2431697 |
159879978 |
A |
intergenic |
African American |
In press |
|
|
|
|
|
29 |
6p23 |
rs17603856 |
16630898 |
T |
intron |
ATXN1 |
|
Chinese and European |
27399966 |
|
|
|
|
|
30 |
6p22 |
rs36014129 |
25884519 |
A |
intron |
SLC17A4 |
|
European |
In press |
|
|
|
|
|
rs35789010 |
25514179 |
A |
intron |
LRRC16A |
|
European |
In press |
|
|
|
|
|
31 |
6p21.32-33 |
rs3906272 |
31262924 |
A |
intron |
HLA-C-HLA-B |
|
UK, Spanish and Filipino |
22233601 |
|
|
|
|
|
rs2246618 |
31478986 |
A |
upstream |
MICB |
|
European |
23084292 |
|
|
|
|
|
rs1269852 |
32080191 |
A |
intron |
MSH5-SAPCD1-TNXB-ATF6B |
|
European |
18204446, 19838195 |
|
|
|
|
|
rs8192591 |
32185796 |
G |
missense |
NOTCH4 |
|
European |
23084292 |
|
|
|
|
|
rs9270984 |
32573991 |
T |
intron |
HLA-DRB1 |
|
Asian and European |
23273568, 20169177, 22233601 |
|
|
|
|
|
rs2187668 |
32605884 |
A |
intron |
HLA-DQA1 |
|
European |
18204098 |
|
|
|
|
|
rs9275572 |
32678999 |
NA |
intergenic |
HLAregion |
|
European |
18204446 |
|
|
|
|
|
rs2051549 |
32730086 |
A |
intron |
HLA-DQA2 |
|
European |
23053960 |
|
|
|
|
|
32 |
6p21.31 |
rs3748079 |
33588147 |
C |
5'-UTR |
ITPR3 |
|
Japanese |
18219441 |
|
|
|
|
|
rs3734266 |
34823187 |
G |
intron |
UHRF1BP1 |
|
Asian and European |
23273568, 26502338 |
|
|
|
|
|
rs11755393 |
34824636 |
G |
missense |
American and Swedish |
19838195 |
|
|
|
|
|
rs2762340 |
35052635 |
G |
intron |
ANKS1A |
ANKS1A |
Asian and European |
28108556 |
|
|
|
|
|
rs10807150 |
35304497 |
C |
intron |
DEF6 |
|
Asian |
26808113 |
|
|
|
|
|
33 |
6q15 |
rs597325 |
91002494 |
G |
intron |
BACH2 |
|
Chinese and European |
27399966 |
|
|
|
|
|
34 |
6q21 |
rs548234 |
106568034 |
G |
intergenic |
PRDM1-ATG5 |
|
Chinese |
19838193 |
|
|
|
|
|
rs6568431 |
106588806 |
A |
intergenic |
American and European |
19838195, 26502338 |
|
|
|
|
|
35 |
6q23 |
rs6932056 |
138242437 |
C |
intergenic |
TNFAIP3 |
|
European |
26502338 |
|
|
|
|
|
rs2327832 |
137973068 |
C |
intron |
OLIG3-LOC100130476 |
|
European |
In press |
|
|
|
|
|
36 |
7p15.1 |
rs849142 |
28185891 |
T |
intron |
JAZF1 |
|
American and European |
19838195, 26502338 |
|
|
|
|
|
37 |
7p12.2 |
rs2366293 |
50227828 |
G |
intergenic |
IKZF1 |
|
UK, American and Swedish |
22046141 |
|
|
|
|
|
rs4917014 |
50305863 |
A |
intergenic |
Chinese and European |
19838193, 26502338 |
|
|
|
|
|
38 |
7q11.23 |
rs73135369 |
73940978 |
C |
intron |
GTF2IRD1-GTF2I |
|
Chinese and European |
27399966 |
|
|
|
|
|
rs73366469 |
74619286 |
C |
intergenic |
Asian and European |
26808113 |
|
|
|
|
|
rs1167796 |
75173180 |
G |
intron |
HIP1 |
|
Chinese |
19838193 |
|
|
|
|
|
rs6964720 |
75180344 |
NA |
intron |
Asian |
26663301 |
|
|
|
|
|
39 |
7q32.1 |
rs729302 |
128568960 |
A |
intergenic |
TNPO3-IRF5 |
IRF5 |
Asian and European |
23273568, 23053960 |
|
|
|
|
|
rs4728142 |
128573967 |
A |
intergenic |
Chinese and European |
19838193, 24871463 |
|
|
|
|
|
rs2070197 |
128589000 |
C |
3'-UTR |
American and Swedish |
19838195 |
|
|
|
|
|
rs12537284 |
128717906 |
A |
intergenic |
European |
18204446 |
|
|
|
|
|
40 |
8p11 |
rs1804182 |
42033519 |
A |
nonsense |
PLAT |
|
African American |
In press |
|
|
|
|
|
41 |
8p23.1 |
rs2980512 |
8140901 |
C |
intergenic |
FAM86B3P |
|
European |
In press |
|
|
|
|
|
rs6985109 |
10767748 |
A |
intron |
XKR6 |
XKR6 |
European |
18204446 |
|
|
|
|
|
rs7836059 |
11272164 |
T |
intron |
C8orf12 |
|
European |
18204446 |
|
|
|
|
|
rs12680762 |
11332026 |
A |
intron |
FAM167A |
FAM167A |
European |
23053960 |
|
|
|
|
|
rs7812879 |
11340181 |
A |
intergenic |
BLK |
BLK, RP11-148O21.2,
RP11-148O21.4 |
Chinese |
19838193 |
|
|
|
|
|
rs2736340 |
11343973 |
T |
intergenic |
American and Swedish |
19838195 |
|
|
|
|
|
rs2248932 |
11391650 |
A |
intron |
Chinese |
19838193 |
|
|
|
|
|
42 |
8q12 |
rs7829816 |
56849386 |
C |
intron |
LYN |
|
European |
18204446 |
|
|
|
|
|
43 |
8q21 |
rs1966115 |
79556891 |
A |
intergenic |
PKIA-ZC2HC1A |
|
European |
In press |
|
|
|
|
|
44 |
9p24 |
rs1887428 |
4984530 |
G |
upstream |
JAK2 |
|
Chinese and European |
27399966 |
|
|
|
|
|
45 |
10q11.23 |
rs7097397 |
50025396 |
G |
missense |
WDFY4 |
WDFY4 |
Asian |
20169177 |
|
|
|
|
|
rs877819 |
50042951 |
A |
intron |
Asian and European |
23273568, 26502338 |
|
|
|
|
|
rs1913517 |
50119054 |
A |
intron |
Chinese |
19838193 |
|
|
|
|
|
46 |
10q21.2 |
rs4948496 |
63805617 |
C |
intron |
ARID5B |
|
Asian and European |
23273568, 26502338 |
|
|
|
|
|
47 |
10q24.33 |
rs4917385 |
103243964 |
NA |
intergenic |
USMG5-miR1307 |
|
American |
26606652 |
|
|
|
|
|
48 |
11p15.5 |
rs12802200 |
566936 |
C |
intron |
IRF7-PHRF1 |
PHRF1, HRAS,
TMEM80,RNH1, ANO9, RASSF7 |
European |
26502338 |
|
|
|
|
|
rs4963128 |
589564 |
C |
intron |
American and European |
19838195, 18204446 |
|
|
|
|
|
49 |
11p13 |
rs2732552 |
35084592 |
T |
intergenic |
CD44 |
|
European, African American and Asian |
21194677, 26502338 |
|
|
|
|
|
50 |
11q13.1 |
rs1308020 |
65497558 |
T |
intergenic |
RNASEH2C |
CTSW, RNASEH2C, FIBP,
MUS81 |
Asian and European |
28108556 |
|
|
|
|
|
rs494003 |
65542298 |
A |
3'-UTR |
Chinese and European |
27399966 |
|
|
|
|
|
rs2009453 |
65632057 |
C |
intron |
PCNXL3 |
|
Asian |
26808113 |
|
|
|
|
|
51 |
11q13.4 |
rs3794060 |
71187679 |
C |
intron |
DHCR7-NADSYN1 |
NADSYN1, RP11-660L16.2, DHCR7 |
European |
26502338 |
|
|
|
|
|
rs11235604 |
72533536 |
T |
missense |
ATG16L2 |
|
Asian and European |
28108556 |
|
|
|
|
|
rs11235667 |
72863697 |
NA |
intergenic |
FCHSD2-P2RY2 |
|
Asian |
26663301 |
|
|
|
|
|
52 |
11q23.3 |
rs11603023 |
118486067 |
T |
intron |
PHLDB1 |
|
Asian |
24001599 |
|
|
|
|
|
rs4639966 |
118573519 |
G |
downstream |
Chinese |
19838193 |
|
|
|
|
|
rs10892301 |
118735476 |
G |
intergenic |
CXCR5 |
|
Asian |
24001599 |
|
|
|
|
|
53 |
11q24.3 |
rs6590330 |
128311059 |
A |
intergenic |
ETS1-FLI1 |
|
Asian |
19838193, 23273568 |
|
|
|
|
|
rs7941765 |
128499000 |
C |
downstream |
European |
26502338 |
|
|
|
|
|
54 |
12p13 |
rs12822507 |
12773521 |
A |
intron |
CREBL2 |
|
Asian |
23273568 |
|
|
|
|
|
rs10845606 |
12834894 |
C |
intron |
GPR19 |
|
Asian |
23273568 |
|
|
|
|
|
rs34330 |
12870695 |
C |
5'-UTR |
CDKN1B |
|
Asian |
23273568 |
|
|
|
|
|
55 |
12q12 |
rs10506216 |
43130885 |
T |
intergenic |
PRICKLE1 |
|
European |
26316170 |
|
|
|
|
|
56 |
12q23.2 |
rs4622329 |
102321935 |
A |
intron |
DRAM1 |
|
Asian |
23273568 |
|
|
|
|
|
57 |
12q24.12 |
rs10774625 |
111910219 |
A |
intron |
SH2B3-ATXN2 |
HECTD4 |
European |
26502338 |
|
|
|
|
|
58 |
12q24.32 |
rs1059312 |
129278864 |
C |
synonymous |
SLC15A4 |
SLC15A4 |
European |
26502338 |
|
|
|
|
|
rs10847697 |
129299385 |
A |
synonymous |
Chinese |
19838193 |
|
|
|
|
|
59 |
13q14.11 |
rs7329174 |
41558110 |
G |
intron |
ELF1 |
|
Asian |
21044949 |
|
|
|
|
|
60 |
14q13.2 |
rs8016947 |
35832666 |
A |
intron |
NFKBIA |
|
Chinese |
24070858 |
|
|
|
|
|
61 |
14q24.1 |
rs4902562 |
68731458 |
A |
intron |
RAD51B |
|
European |
26502338 |
|
|
|
|
|
62 |
14q31 |
rs11845506 |
88383035 |
C |
intron |
GALC |
|
Hispanic |
In press |
|
|
|
|
|
63 |
15q14 |
rs12900339 |
38635185 |
A |
intergenic |
RASGRP1 |
|
Asian |
26808113 |
|
|
|
|
|
rs11073328 |
38764843 |
NA |
intron |
FAM98B |
|
European |
24871463 |
|
|
|
|
|
64 |
15q24 |
rs34933034 |
75079474 |
NA |
intron |
CSK |
FAM219B, CSK, MPI,
C15ORF39, ULK3, UBE2Q2 |
European |
23042117 |
|
|
|
|
|
rs2289583 |
75311036 |
A |
intron |
European |
26502338 |
|
|
|
|
|
65 |
15q26.2 |
rs8023715 |
97607681 |
NA |
intergenic |
SPATA8 |
|
European |
24871463 |
|
|
|
|
|
66 |
16p13 |
rs8054198 |
11038360 |
C |
5'-UTR |
CLEC16A-CIITA-SOCS1 |
SOCS1 |
Hispanic |
In press |
|
|
|
|
|
rs9652601 |
11174365 |
G |
intron |
European |
26502338 |
|
|
|
|
|
rs12599402 |
11189888 |
A |
intron |
Chinese |
20805369 |
|
|
|
|
|
67 |
16p11.2 |
rs16972959 |
23901376 |
A |
intron |
PRKCB |
PYCARD |
Chinese |
21134959 |
|
|
|
|
|
rs7197475 |
30642867 |
A |
intergenic |
ITGAM-ITGAX |
ITGAM |
Chinese |
19838193 |
|
|
|
|
|
rs34572943 |
31272353 |
A |
intron |
European |
26502338, 18204446 |
|
|
|
|
|
rs11574637 |
31368874 |
C |
intron |
European |
18204098 |
|
|
|
|
|
68 |
16q13 |
rs223881 |
57386566 |
C |
intergenic |
CCL22 |
|
Asian and European |
28108556 |
|
|
|
|
|
69 |
16q22.1 |
rs1170426 |
68603798 |
C |
intron |
ZFP90 |
ZFP90 |
Chinese and European |
27399966 |
|
|
|
|
|
70 |
16q24.1 |
rs2934498 |
85968282 |
G |
intergenic |
IRF8 |
|
Chinese |
25890262 |
|
|
|
|
|
rs11644034 |
85972612 |
G |
intergenic |
European, African American and Asian |
22464253, 26502338 |
|
|
|
|
|
rs2280381 |
86018633 |
A |
intergenic |
UK, American and Swedish |
22046141 |
|
|
|
|
|
71 |
17p13.2 |
rs2286672 |
4712617 |
T |
missense |
PLD2 |
INCA1 |
European |
26502338 |
|
|
|
|
|
72 |
17q12 |
rs2941509 |
37921194 |
A |
3'-UTR |
IKZF3 |
|
European |
26502338 |
|
|
|
|
|
73 |
17q25 |
rs930297 |
73404537 |
A |
intergenic |
GRB2 |
|
European |
In press |
|
|
|
|
|
74 |
18q22.2 |
rs1610555 |
69875911 |
T |
intron |
CD226 |
|
Asian |
26808113 |
|
|
|
|
|
75 |
19p13 |
rs3093030 |
10397403 |
A |
downstream |
ICAM1-ICAM4-ICAM5 |
|
European, African, Hispanic, and Korean |
22523428 |
|
|
|
|
|
rs280519 |
10472933 |
A |
intron |
TYK2 |
TYK2 |
UK, American and Swedish |
22046141 |
|
|
|
|
|
rs2304256 |
10475652 |
C |
missense |
European |
26502338 |
|
|
|
|
|
76 |
19q13.41 |
rs2305772 |
51530488 |
G |
missense |
SIGLEC6 |
|
Asian |
26808113 |
|
|
|
|
|
77 |
20q13.12 |
rs4810485 |
44747947 |
T |
intron |
CD40 |
|
Greek and Turkey |
21914625 |
|
|
|
|
|
78 |
20q13.13 |
rs11697848 |
48575315 |
NA |
intergenic |
RNF114 |
|
European |
24871463 |
|
|
|
|
|
79 |
22q11.21 |
rs463426 |
21809185 |
A |
intergenic |
UBE2L3-YDJC-HIC2 |
UBE2L3 |
Chinese |
19838193 |
|
|
|
|
|
rs131654 |
21917190 |
A |
intron |
Chinese |
19838193 |
|
|
|
|
|
rs7444 |
21976934 |
C |
3'-UTR |
European |
26502338 |
|
|
|
|
|
80 |
22q13.1 |
rs61616683 |
39359768 |
T |
intron |
SYNGR1 |
|
Asian |
26808113 |
|
|
|
|
|
81 |
Xp22.2 |
rs7062536 |
12839152 |
A |
intron |
PRPS2 |
|
Asian |
25149475 |
|
|
|
|
|
rs3853839 |
12907658 |
G |
3'-UTR |
TLR7 |
|
Asian |
20733074 |
|
|
|
|
|
82 |
Xp21.2 |
rs887369 |
30577846 |
C |
synonymous |
CXorf21 |
|
European |
26502338 |
|
|
|
|
|
83 |
Xp11.21 |
rs5914778 |
56758231 |
NA |
intron |
LINC01420 |
|
Chinese |
26635088 |
|
|
|
|
|
84 |
Xq28 |
rs17422 |
153227426 |
C |
intron |
NAA10-HCFC1-TMEM187 |
|
European Americans, African Americans, Asian Americans and Hispanic Americans |
25149475, 19329491 |
|
|
|
|
|
rs1734787 |
153325446 |
C |
intron |
IRAK1-MECP2 |
|
European |
26502338 |
|
|
|
|
|
* Locus gene,
is the gene that located close to the GWAS SNP, or the gene that annotated in
the corresponding publications. |
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** eGene, is a gene whose expression is affected by the GWAS
SNP (eSNP), with a significant co-localisation of eQTL signal and GWAS
signal. |
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