Table 1.
Chr | Position (hg19 (Mb)) | SNP | Key Genes (+N additional in locus) |
---|---|---|---|
Crohn’s Disease | |||
| |||
1 | 78.62 | rs17391694 | (5) |
1 | 114.3 | rs6679677§ | PTPN22||,(8) |
1 | 120.45 | rs3897478 | ADAM30,(5) |
1 | 172.85 | rs9286879 | FASLG,TNFSF18,(0) |
2 | 27.63 | rs1728918 | UCN,(23) |
2 | 62.55 | rs10865331 | (3) |
2 | 231.09 | rs6716753 | SP140,(5) |
2 | 234.15 | rs12994997 | ATG16L1||, (8) |
4 | 48.36 | rs6837335 | (6) |
4 | 102.86 | rs13126505 | (1) |
5 | 55.43 | rs10065637 | IL6ST,IL31RA,(1) |
5 | 72.54 | rs7702331 | (4) |
5 | 173.34 | rs17695092 | CPEB4,(2) |
6 | 21.42 | rs12663356 | (3) |
6 | 31.27 | rs9264942 | (22) |
6 | 127.45 | rs9491697 | (3) |
6 | 128.24 | rs13204742 | (2) |
6 | 159.49 | rs212388 | TAGAP,(5) |
7 | 26.88‡ | rs10486483 | (2) |
7 | 28.17 | rs864745 | CREB5,JAZF1,(1) |
8 | 90.87 | rs7015630 | RIPK2,(4) |
8 | 129.56 | rs6651252 | 0 |
13 | 44.45 | rs3764147 | LACC1,(3) |
15 | 38.89 | rs16967103 | RASGRP1,SPRED1,(2) |
16 | 50.66** | rs2066847§ | NOD2||, (6) |
17 | 25.84 | rs2945412 | LGALS9,NOS2,(3) |
19 | 1.12 | rs2024092 | GPX4,HMHA1,(20) |
19 | 46.85‡ | rs4802307 | (9) |
19 | 49.2 | rs516246 | FUT2, (25) |
21 | 34.77 | rs2284553 | IFNGR2,IFNAR1, (10) |
| |||
Ulcerative Colitis | |||
| |||
1 | 2.5 | rs10797432 | TNFRSF14, (10) |
1 | 20.15** | rs6426833 | (9) |
1 | 200.09 | rs2816958 | (3) |
2 | 198.65 | rs1016883 | RFTN2,PLCL1,(7) |
2 | 199.70* | rs17229285 | 0 |
3 | 53.05 | rs9847710 | PRKCD,ITIH4,(8) |
4 | 103.51 | rs3774959 | NFKB1,MANBA,(2) |
5 | 0.59 | rs11739663 | SLC9A3,(8) |
5 | 134.44 | rs254560 | (6) |
6 | 32.595 | rs6927022 | (15) |
7 | 2.78 | rs798502 | CARD11, GNA12, (5) |
7 | 27.22‡ | rs4722672 | (14) |
7 | 107.45* | rs4380874 | DLD,(9) |
7 | 128.57 | rs4728142 | IRF5||, (13) |
11 | 96.02 | rs483905 | JRKL,MAML2,(2) |
11 | 114.38 | rs561722 | FAM55A,FAM55D,(5) |
15 | 41.55 | rs28374715 | (11) |
16 | 30.47 | rs11150589 | ITGAL,(20) |
16 | 68.58 | rs1728785 | ZFP90,(6) |
17 | 70.64 | rs7210086 | (3) |
19 | 47.12‡ | rs1126510 | CALM3,(14) |
20 | 33.8 | rs6088765 | (11) |
20 | 43.06 | rs6017342 | ADA,HNF4A,(9) |
| |||
Inflammatory Bowel Disease | |||
| |||
1 | 1.24 | rs12103 | TNFRSF18,TNFRSF4,(30) |
1 | 8.02 | rs35675666 | TNFRSF9,(6) |
1 | 22.7 | rs12568930† | (3) |
1 | 67.68** | rs11209026† | IL23R||, (5) |
1 | 70.99 | rs2651244† | (3) |
1 | 151.79 | rs4845604† | RORC,(14) |
1 | 155.67 | rs670523† | (31) |
1 | 160.85 | rs4656958† | CD48, (15) |
1 | 161.47 | rs1801274† | FCGR2A/B, FCGR3A, (13) |
1 | 197.6 | rs2488389 | C1orf53,(2) |
1 | 200.87 | rs7554511 | KIF21B,(6) |
1 | 206.93 | rs3024505† | IL10, (10) |
2 | 25.12 | rs6545800† | ADCY3,(6) |
2 | 28.61 | rs925255† | FOSL2,BRE,(1) |
2 | 43.81 | rs10495903† | (5) |
2 | 61.2 | rs7608910 | REL, (9) |
2 | 65.67 | rs6740462 | SPRED2,(1) |
2 | 102.86* | rs917997† | IL18RAP, IL1R1, (7) |
2 | 163.1 | rs2111485 | IFIH1,(5) |
2 | 191.92 | rs1517352 | STAT1,STAT4,(2) |
2 | 219.14 | rs2382817 | (15) |
2 | 241.57* | rs3749171† | GPR35,(12) |
3 | 18.76 | rs4256159† | 0 |
3 | 48.96** | rs3197999 | MST1, PFKB4, (63) |
4 | 74.85 | rs2472649† | (11) |
4 | 123.22 | rs7657746 | IL2,IL21,(2) |
5 | 10.69 | rs2930047 | DAP,(2) |
5 | 40.38** | rs11742570† | PTGER4,(1) |
5 | 96.24 | rs1363907 | ERAP2, ERAP1, (3) |
5 | 130.01 | rs4836519† | (1) |
5 | 131.19* | rs2188962† | IBD5 locus, (18) |
5 | 141.51 | rs6863411† | SPRY4,NDFIP1,(5) |
5 | 150.27 | rs11741861† | IRGM||, (10) |
5 | 158.8** | rs6871626† | IL12B,(3) |
5 | 176.79 | rs12654812 | DOK3,(17) |
6 | 14.71 | rs17119 | 0 |
6 | 20.77* | rs9358372† | (2) |
6 | 90.96 | rs1847472 | (1) |
6 | 106.43 | rs6568421† | (2) |
6 | 111.82 | rs3851228 | TRAF3IP2, (4) |
6 | 138 | rs6920220† | TNFAIP3,(1) |
6 | 143.9 | rs12199775 | PHACTR2,(5) |
6 | 167.37 | rs1819333† | CCR6,RPS6KA2,(4) |
7 | 50.245* | rs1456896 | ZPBP,IKZF1,(4) |
7 | 98.75 | rs9297145 | SMURF1,(6) |
7 | 100.34 | rs1734907† | EPO,(21) |
7 | 116.89 | rs38904† | (6) |
8 | 126.53 | rs921720† | TRIB1,(1) |
8 | 130.62 | rs1991866 | (2) |
9 | 4.98 | rs10758669 | JAK2,(4) |
9 | 93.92 | rs4743820† | NFIL3,(2) |
9 | 117.60** | rs4246905 | TNFSF15, (4) |
9 | 139.32* | rs10781499† | CARD9, (22) |
10 | 6.08 | rs12722515† | IL2RA,IL15RA,(6) |
10 | 30.72 | rs1042058† | MAP3K8,(3) |
| |||
Inflammatory Bowel Disease | |||
| |||
10 | 35.3 | rs11010067† | CREM,(3) |
10 | 59.99 | rs2790216 | CISD1,IPMK,(2) |
10 | 64.51** | rs10761659† | (3) |
10 | 75.67 | rs2227564† | (13) |
10 | 81.03 | rs1250546† | (5) |
10 | 82.25 | rs6586030† | TSPAN14,C10orf58,(4) |
10 | 94.43 | rs7911264 | (4) |
10 | 101.28 | rs4409764 | NKX2-3,(6) |
11 | 1.87 | rs907611 | TNNI2,LSP1,(17) |
11 | 58.33 | rs10896794 | CNTF,LPXN,(8) |
11 | 60.77 | rs11230563 | CD6, (14) |
11 | 61.56 | rs4246215† | (15) |
11 | 64.12 | rs559928 | CCDC88B,(23) |
11 | 65.65 | rs2231884† | RELA, (25) |
11 | 76.29 | rs2155219† | (5) |
11 | 87.12 | rs6592362 | (1) |
11 | 118.74 | rs630923† | CXCR5,(17) |
12 | 12.65 | rs11612508† | LOH12CR1,(8) |
12 | 40.77* | rs11564258† | MUC19,(1) |
12 | 48.2 | rs11168249† | VDR,(8) |
12 | 68.49 | rs7134599† | IFNG, (3) |
13 | 27.52 | rs17085007† | (2) |
13 | 40.86** | rs941823† | (3) |
13 | 99.95 | rs9557195 | GPR183,GPR18,(6) |
14 | 69.27 | rs194749† | ZFP36L1,(4) |
14 | 75.7 | rs4899554† | FOS,MLH3,(6) |
14 | 88.47 | rs8005161 | GPR65,GALC,(1) |
15 | 67.43 | rs17293632† | SMAD3,(2) |
15 | 91.17 | rs7495132 | CRTC3,(3) |
16 | 11.54* | rs529866† | SOCS1,LITAF, (11) |
16 | 23.86 | rs7404095 | PRKCB,(5) |
16 | 28.6 | rs26528† | IL27, (14) |
16 | 86 | rs10521318† | IRF8,(4) |
17 | 32.59 | rs3091316† | CCL13,CCL2, (5) |
17 | 37.91 | rs12946510 | ORMDL3, (16) |
17 | 40.53 | rs12942547† | STAT3, (15) |
17 | 57.96 | rs1292053† | TUBD1,RPS6KB1,(9) |
18 | 12.8 | rs1893217† | (6) |
18 | 46.39 | rs7240004† | SMAD7,(2) |
18 | 67.53 | rs727088 | CD226,(2) |
19 | 10.49* | rs11879191 | TYK2, (27) |
19 | 33.73 | rs17694108 | CEBPG,(8) |
19 | 55.38 | rs11672983 | (19) |
20 | 30.75 | rs6142618† | HCK,(10) |
20 | 31.37 | rs4911259 | DNMT3B,(8) |
20 | 44.74 | rs1569723† | CD40, (13) |
20 | 48.95 | rs913678 | CEBPB,(5) |
20 | 57.82 | rs259964 | ZNF831,CTSZ,(5) |
20 | 62.34 | rs6062504 | TNFRSF6B, (26) |
21 | 16.81 | rs2823286† | 0 |
21 | 40.46 | rs2836878† | (3) |
21 | 45.62 | rs7282490 | ICOSLG,(9) |
22 | 21.92 | rs2266959 | (13) |
22 | 30.43 | rs2412970 | LIF, OSM, (9) |
22 | 39.69* | rs2413583† | (19) |
The position given is the middle of the locus window.
= additional genome-wide significant associated SNP in the region.
= two or more additional genome-wide significant SNPs in the region.
= These regions have overlapping but distinct UC and CD signals.
= heterogeneity of odds ratios.
= CD risk allele is significantly protective in UC.
= gene for which functional studies of associated alleles have been reported. Newly discovered loci. Bolded rs numbers indicate SNPs with p-values less than 10−13. Listed are genes implicated by one or more candidate genes approaches. Bolded genes have been implicated by two or more candidate gene approaches. For each locus, the top two candidate genes are listed. A complete listing of gene prioritization is provided in Supplementary Table 2.