Table 1. Summary of significant IBD, CD and UC loci identified by GWAS.
| Chr | Position (Mb) | SNP | Source5, 6 | Type | Candidate Genes |
|---|---|---|---|---|---|
| 1 | 1.24 | rs12103 | Jostins et al., | IBD | TNFRSF18,TNFRSF4,(30) |
| 1 | 2.5 | rs10797432 | Jostins et al., | UC | TNFRSF14,MMEL1,PLCH2,(8) |
| 1 | 8.02 | rs35675666 | Jostins et al., | IBD | TNFRSF9,(6) |
| 1 | 20.15 | rs6426833 | Jostins et al., | UC | (9) |
| 1 | 22.7 | rs12568930 | Jostins et al., | IBD | (3) |
| 1 | 63.05 | rs1748195 | Liu et al., | CD | USP1 |
| 1 | 67.68 | rs11209026 | Jostins et al., | IBD | IL23R,IL12RB2,(4) |
| 1 | 70.99 | rs2651244 | Jostins et al., | IBD | (3) |
| 1 | 78.62 | rs17391694 | Jostins et al., | CD | (5) |
| 1 | 92.55 | rs34856868 | Liu et al., | IBD | BTBD8 |
| 1 | 101.47 | rs11583043 | Liu et al., | UC | SLC30A, EDG1 |
| 1 | 114.3 | rs6679677 | Jostins et al., | CD | PTPN22,DCLRE1B,(7) |
| 1 | 120.45 | rs3897478 | Jostins et al., | CD | ADAM30,(5) |
| 1 | 151.79 | rs4845604 | Jostins et al., | IBD | RORC,(14) |
| 1 | 155.67 | rs670523 | Jostins et al., | IBD | UBQLN4,RIT1,MSTO1,(28) |
| 1 | 160.85 | rs4656958 | Jostins et al., | IBD | CD48,SLAMF1,ITLN1,CD244,F11R,USF1,SLAMF 7,ARHGAP30,(8) |
| 1 | 161.47 | rs1801274 | Jostins et al., | IBD | FCGR2A,FCGR2B,FCGR3A,HSPA6,FCGR3B,FCRL A,(9) |
| 1 | 169.52 | rs6025 | Liu et al., | IBD | SELP, SELE, SELL |
| 1 | 172.85 | rs9286879 | Jostins et al., | CD | FASLG,TNFSF18,(0) |
| 1 | 186.88 | rs10798069 | Liu et al., | CD | PTGS2, PLA2G4A |
| 1 | 197.6 | rs2488389 | Jostins et al., | IBD | C1orf53,(2) |
| 1 | 198.6 | rs7555082 | Liu et al., | CD | PTPRC |
| 1 | 200.09 | rs2816958 | Jostins et al., | UC | (3) |
| 1 | 200.87 | rs7554511 | Jostins et al., | IBD | KIF21B,(6) |
| 1 | 206.93 | rs3024505 | Jostins et al., | IBD | IL10,IL20,IL19,IL24,PIGR,MAPKAPK2,FAIM3,RA SSF5,(3) |
| 2 | 25.12 | rs6545800 | Jostins et al., | IBD | ADCY3,(6) |
| 2 | 27.63 | rs1728918 | Jostins et al., | CD | UCN,(23) |
| 2 | 28.61 | rs925255 | Jostins et al., | IBD | FOSL2,BRE,(1) |
| 2 | 43.81 | rs10495903 | Jostins et al., | IBD | (5) |
| 2 | 61.2 | rs7608910 | Jostins et al., | IBD | REL,C2orf74,KIAA1841,AHSA2,(6) |
| 2 | 62.55 | rs10865331 | Jostins et al., | CD | (3) |
| 2 | 65.67 | rs6740462 | Jostins et al., | IBD | SPRED2,(1) |
| 2 | 102.86 | rs917997 | Jostins et al., | IBD | IL1R2,IL18RAP,IL18R1,IL1R1,IL1RL1,IL1RL2,(3) |
| 2 | 145.49 | rs11681525 | Liu et al., | CD | - |
| 2 | 160.79 | rs4664304 | Liu et al., | IBD | MARCH7, LY75, PLA2R1 |
| 2 | 163.1 | rs2111485 | Jostins et al., | IBD | IFIH1,(5) |
| 2 | 191.92 | rs1517352 | Jostins et al., | IBD | STAT1,STAT4,(2) |
| 2 | 198.65 | rs1016883 | Jostins et al., | UC | RFTN2,PLCL1,(7) |
| 2 | 199.7 | rs17229285 | Jostins et al., | UC | 0 |
| 2 | 204.59 | rs3116494 | Liu et al., | UC | ICOS, CD28, CTLA4 |
| 2 | 219.14 | rs2382817 | Jostins et al., | IBD | SLC11A1,CXCR2,CXCR1,PNKD,ARPC2,TMBIM1, CTDSP1,(8) |
| 2 | 228.66 | rs11178120 3 | Liu et al., | IBD | CCL20 |
| 2 | 231.09 | rs6716753 | Jostins et al., | CD | SP140,(5) |
| 2 | 234.145 | rs12994997 | Jostins et al., | CD | ATG16L1, INPP5D, (7) |
| 2 | 241.57 | rs3749171 | Jostins et al., | IBD | GPR35,(12) |
| 2 | 242.74 | rs35320439 | Liu et al., | CD | PDCD1, ATG4B |
| 3 | 18.76 | rs4256159 | Jostins et al., | IBD | 0 |
| 3 | 46.46 | rs11301008 1 | Liu et al., | UC | FLJ78302, LTF, CCR1, CCR2, CCR3, CCR5 |
| 3 | 48.96 | rs3197999 | Jostins et al., | IBD | MST1,PFKFB4,MST1R,UCN2,GPX1,IP6K2,BSN,IP 6K1,USP4,(56) |
| 3 | 53.05 | rs9847710 | Jostins et al., | UC | PRKCD,ITIH4,(8) |
| 3 | 101.57 | rs616597 | Liu et al., | UC | NFKBIZ |
| 3 | 141.11 | rs724016 | Liu et al., | CD | - |
| 4 | 3.44 | rs2073505 | Liu et al., | IBD | HGFAC |
| 4 | 26.13 | rs4692386 | Liu et al., | IBD | - |
| 4 | 38.33 | rs6856616 | Liu et al., | IBD | - |
| 4 | 48.36 | rs6837335 | Jostins et al., | CD | TXK,TEC,SLC10A4,(3) |
| 4 | 74.85 | rs2472649 | Jostins et al., | IBD | CXCL5,CXCL1,CXCL3,IL8,CXCL6,PF4,CXCL2,PF4V 1,(3) |
| 4 | 102.86 | rs13126505 | Jostins et al., | CD | (1) |
| 4 | 103.51 | rs3774959 | Jostins et al., | UC | NFKB1,MANBA,(2) |
| 4 | 106.08 | rs2189234 | Liu et al., | UC | - |
| 4 | 123.22 | rs7657746 | Jostins et al., | IBD | IL2,IL21,(2) |
| 5 | 0.59 | rs11739663 | Jostins et al., | UC | SLC9A3,(8) |
| 5 | 10.69 | rs2930047 | Jostins et al., | IBD | DAP,(2) |
| 5 | 38.87 | rs395157 | Liu et al., | IBD | OSMR, FYB, LIFR |
| 5 | 40.38 | rs11742570 | Jostins et al., | IBD | PTGER4,(1) |
| 5 | 55.43 | rs10065637 | Jostins et al., | CD | IL6ST,IL31RA,(1) |
| 5 | 71.69 | rs4703855 | Liu et al., | IBD | - |
| 5 | 72.54 | rs7702331 | Jostins et al., | CD | (4) |
| 5 | 96.24 | rs1363907 | Jostins et al., | IBD | ERAP2,ERAP1,LNPEP,(2) |
| 5 | 130.005 | rs4836519 | Jostins et al., | IBD | (1) |
| 5 | 131.19 | rs2188962 | Jostins et al., | IBD | IRF1,IL13,CSF2,SLC22A4,IL4,IL3,IL5,PDLIM4,SLC 22A5,ACSL6,(8) |
| 5 | 134.44 | rs254560 | Jostins et al., | UC | (6) |
| 5 | 141.51 | rs6863411 | Jostins et al., | IBD | SPRY4,NDFIP1,(5) |
| 5 | 150.27 | rs11741861 | Jostins et al., | IBD | TNIP1,IRGM,ZNF300P1,(8) |
| 5 | 158.8 | rs6871626 | Jostins et al., | IBD | IL12B,(3) |
| 5 | 172.32 | rs564349 | Liu et al., | IBD | C5orf4, DUSP1 |
| 5 | 173.34 | rs17695092 | Jostins et al., | CD | CPEB4,(2) |
| 5 | 176.79 | rs12654812 | Jostins et al., | IBD | DOK3,(17) |
| 6 | 0.38 | rs7773324 | Liu et al., | CD | IRF4, DUSP22 |
| 6 | 3.42 | rs13204048 | Liu et al., | CD | - |
| 6 | 14.71 | rs17119 | Jostins et al., | IBD | 0 |
| 6 | 20.77 | rs9358372 | Jostins et al., | IBD | (2) |
| 6 | 21.42 | rs12663356 | Jostins et al., | CD | (3) |
| 6 | 31.27 | rs9264942 | Jostins et al., | CD | HLA-C,PSORS1C1,NFKBIL1,MICB,(18) |
| 6 | 32.595 | rs6927022 | Jostins et al., | UC | HLA-DQB1,HLA-DRB1,HLA-DQA1,HLA-DRA,(12) |
| 6 | 90.96 | rs1847472 | Jostins et al., | IBD | (1) |
| 6 | 106.43 | rs6568421 | Jostins et al., | IBD | (2) |
| 6 | 111.82 | rs3851228 | Jostins et al., | IBD | TRAF3IP2,FYN,REV3L,(2) |
| 6 | 127.45 | rs9491697 | Jostins et al., | CD | (3) |
| 6 | 128.24 | rs13204742 | Jostins et al., | CD | (2) |
| 6 | 138 | rs6920220 | Jostins et al., | IBD | TNFAIP3,(1) |
| 6 | 143.9 | rs12199775 | Jostins et al., | IBD | PHACTR2,(5) |
| 6 | 149.58 | rs7758080 | Liu et al., | CD | MAP3K7IP2 |
| 6 | 159.49 | rs212388 | Jostins et al., | CD | TAGAP,(5) |
| 6 | 167.37 | rs1819333 | Jostins et al., | IBD | CCR6,RPS6KA2,RNASET2,(3) |
| 7 | 2.78 | rs798502 | Jostins et al., | UC | CARD11,GNA12,TTYH3,(4) |
| 7 | 17.44 | rs1077773 | Liu et al., | UC | AHR |
| 7 | 27.22 | rs4722672 | Jostins et al., | UC | (14) |
| 7 | 28.17 | rs864745 | Jostins et al., | CD | CREB5,JAZF1,(1) |
| 7 | 50.245 | rs1456896 | Jostins et al., | IBD | ZPBP,IKZF1,(4) |
| 7 | 98.75 | rs9297145 | Jostins et al., | IBD | SMURF1,(6) |
| 7 | 100.335 | rs1734907 | Jostins et al., | IBD | EPO,(21) |
| 7 | 107.45 | rs4380874 | Jostins et al., | UC | DLD,(9) |
| 7 | 116.89 | rs38904 | Jostins et al., | IBD | (6) |
| 7 | 128.57 | rs4728142 | Jostins et al., | UC | IRF5,TNPO3,TSPAN33,(11) |
| 7 | 148.22 | rs2538470 | Liu et al., | IBD | CNTNAP2 |
| 7 | 26.88 | rs10486483 | Jostins et al., | CD | (2) |
| 8 | 27.23 | rs17057051 | Liu et al., | IBD | PTK2B, TRIM35, EPHX2 |
| 8 | 49.13 | rs7011507 | Liu et al., | UC | - |
| 8 | 90.87 | rs7015630 | Jostins et al., | CD | RIPK2,(4) |
| 8 | 126.53 | rs921720 | Jostins et al., | IBD | TRIB1,(1) |
| 8 | 129.56 | rs6651252 | Jostins et al., | CD | 0 |
| 8 | 130.62 | rs1991866 | Jostins et al., | IBD | (2) |
| 9 | 4.98 | rs10758669 | Jostins et al., | IBD | JAK2,(4) |
| 9 | 93.92 | rs4743820 | Jostins et al., | IBD | NFIL3,(2) |
| 9 | 117.6 | rs4246905 | Jostins et al., | IBD | TNFSF8,TNFSF15,TNC,(2) |
| 9 | 139.32 | rs10781499 | Jostins et al., | IBD | CARD9,PMPCA,SDCCAG3,INPP5E,(19) |
| 10 | 6.08 | rs12722515 | Jostins et al., | IBD | IL2RA,IL15RA,(6) |
| 10 | 30.72 | rs1042058? | Jostins et al., | IBD | MAP3K8,(3) |
| 10 | 35.295 | rs11010067 | Jostins et al., | IBD | CREM,(3) |
| 10 | 59.99 | rs2790216 | Jostins et al., | IBD | CISD1,IPMK,(2) |
| 10 | 64.51 | rs10761659 | Jostins et al., | IBD | (3) |
| 10 | 75.67 | rs2227564 | Jostins et al., | IBD | (13) |
| 10 | 81.03 | rs1250546 | Jostins et al., | IBD | (5) |
| 10 | 82.25 | rs6586030 | Jostins et al., | IBD | TSPAN14,C10orf58,(4) |
| 10 | 94.43 | rs7911264 | Jostins et al., | IBD | (4) |
| 10 | 101.28 | rs4409764 | Jostins et al., | IBD | NKX2-3,(6) |
| 10 | 104.23 | rs3740415 | Liu et al., | IBD | NFKB2, TRIM8, TMEM180 |
| 11 | 1.87 | rs907611 | Jostins et al., | IBD | TNNI2,LSP1,(17) |
| 11 | 58.33 | rs10896794 | Jostins et al., | IBD | CNTF,LPXN,(8) |
| 11 | 60.77 | rs11230563 | Jostins et al., | IBD | CD6,CD5,PTGDR2,(12) |
| 11 | 61.56 | rs4246215 | Jostins et al., | IBD | C11orf9,FADS1,FADS2,(12) |
| 11 | 64.12 | rs559928 | Jostins et al., | IBD | CCDC88B,RPS6KA4,TRPT1,FLRT1,(20) |
| 11 | 65.65 | rs2231884 | Jostins et al., | IBD | RELA,FOSL1,CTSW,SNX32,(22) |
| 11 | 76.29 | rs2155219 | Jostins et al., | IBD | (5) |
| 11 | 96.02 | rs483905 | Jostins et al., | UC | JRKL,MAML2,(2) |
| 11 | 114.38 | rs561722 | Jostins et al., | UC | FAM55A,FAM55D,(5) |
| 11 | 118.74 | rs630923 | Jostins et al., | IBD | CXCR5,(17) |
| 12 | 6.49 | rs7954567 | Liu et al., | CD | CD27, TNFRSF1A, LTBR |
| 12 | 12.65 | rs11612508 | Jostins et al., | IBD | LOH12CR1,(8) |
| 12 | 40.77 | rs11564258 | Jostins et al., | IBD | LRRK2,MUC19 |
| 12 | 48.2 | rs11168249 | Jostins et al., | IBD | VDR,(8) |
| 12 | 68.49 | rs7134599 | Jostins et al., | IBD | IFNG,IL26,IL22,(1) |
| 12 | 112.01 | rs653178 | Liu et al., | IBD | SH2B3, ALDH2, ATXN2 |
| 12 | 120.15 | rs11064881 | Liu et al., | IBD | PRKAB1 |
| 13 | 27.52 | rs17085007 | Jostins et al., | IBD | (2) |
| 13 | 40.86 | rs941823 | Jostins et al., | IBD | (3) |
| 13 | 43.02 | rs9525625 | Liu et al., | CD | AKAP1, TFSF11 |
| 13 | 44.45 | rs3764147 | Jostins et al., | CD | LACC1,(3) |
| 13 | 99.95 | rs9557195 | Jostins et al., | IBD | GPR183,GPR18,(6) |
| 14 | 69.27 | rs194749 | Jostins et al., | IBD | ZFP36L1,(4) |
| 14 | 75.7 | rs4899554 | Jostins et al., | IBD | FOS,MLH3,(6) |
| 14 | 88.47 | rs8005161 | Jostins et al., | IBD | GPR65,GALC,(1) |
| 15 | 38.89 | rs16967103 | Jostins et al., | CD | RASGRP1,SPRED1,(2) |
| 15 | 41.55 | rs28374715 | Jostins et al., | UC | ITPKA,NDUFAF1,NUSAP1,(8) |
| 15 | 67.43 | rs17293632 | Jostins et al., | IBD | SMAD3,(2) |
| 15 | 91.17 | rs7495132 | Jostins et al., | IBD | CRTC3,(3) |
| 16 | 11.54 | rs529866 | Jostins et al., | IBD | SOCS1,LITAF,RMI2,(10) |
| 16 | 23.86 | rs7404095 | Jostins et al., | IBD | PRKCB,(5) |
| 16 | 28.595 | rs26528 | Jostins et al., | IBD | RABEP2,IL27,EIF3C,SULT1A1,SULT1A2,NUPR1,(9) |
| 16 | 30.47 | rs11150589 | Jostins et al., | UC | ITGAL,(20) |
| 16 | 50.66 | rs2066847 | Jostins et al., | CD | NOD2,ADCY7,(5) |
| 16 | 68.58 | rs1728785 | Jostins et al., | UC | ZFP90,(6) |
| 16 | 86 | rs10521318 | Jostins et al., | IBD | IRF8,(4) |
| 17 | 25.84 | rs2945412 | Jostins et al., | CD | LGALS9,NOS2,(3) |
| 17 | 32.59 | rs3091316 | Jostins et al., | IBD | CCL13,CCL2,CCL11,(4) |
| 17 | 37.91 | rs12946510 | Jostins et al., | IBD | IKZF3,ZPBP2,GSDMB,ORMDL3,GSDMA,(12) |
| 17 | 40.53 | rs12942547 | Jostins et al., | IBD | STAT3,STAT5B,STAT5A,(13) |
| 17 | 54.88 | rs3853824 | Liu et al., | CD | - |
| 17 | 57.96 | rs1292053 | Jostins et al., | IBD | TUBD1,RPS6KB1,(9) |
| 17 | 70.64 | rs7210086 | Jostins et al., | UC | (3) |
| 17 | 76.74 | rs17736589 | Liu et al., | UC | - |
| 18 | 12.8 | rs1893217 | Jostins et al., | IBD | (6) |
| 18 | 46.39 | rs7240004 | Jostins et al., | IBD | SMAD7,(2) |
| 18 | 56.88 | rs9319943 | Liu et al., | CD | - |
| 18 | 67.53 | rs727088 | Jostins et al., | IBD | CD226,(2) |
| 18 | 77.22 | rs7236492 | Liu et al., | CD | NFATC1, TST |
| 19 | 1.12 | rs2024092 | Jostins et al., | CD | GPX4,HMHA1,(20) |
| 19 | 10.49 | rs11879191 | Jostins et al., | IBD | TYK2,PPAN-P2RY11,ICAM1,(25) |
| 19 | 33.73 | rs17694108 | Jostins et al., | IBD | CEBPG,(8) |
| 19 | 46.85 | rs4802307 | Jostins et al., | CD | (9) |
| 19 | 47.12 | rs1126510 | Jostins et al., | UC | CALM3,(14) |
| 19 | 49.2 | rs516246 | Jostins et al., | CD | DBP,SPHK2,IZUMO1,FUT2,(22) |
| 19 | 55.38 | rs11672983 | Jostins et al., | IBD | NLRP7,NLRP2,KIR2DL1,LILRB4,(15) |
| 20 | 30.75 | rs6142618 | Jostins et al., | IBD | HCK,(10) |
| 20 | 31.37 | rs4911259 | Jostins et al., | IBD | DNMT3B,(8) |
| 20 | 33.8 | rs6088765 | Jostins et al., | UC | PROCR,UQCC,CEP250,(8) |
| 20 | 43.06 | rs6017342 | Jostins et al., | UC | ADA,HNF4A,(9) |
| 20 | 44.74 | rs1569723 | Jostins et al., | IBD | CD40,MMP9,PLTP,(11) |
| 20 | 48.95 | rs913678 | Jostins et al., | IBD | CEBPB,(5) |
| 20 | 57.82 | rs259964 | Jostins et al., | IBD | ZNF831,CTSZ,(5) |
| 20 | 62.34 | rs6062504 | Jostins et al., | IBD | TNFRSF6B,LIME1,SLC2A4RG,ZGPAT,(23) |
| 21 | 16.81 | rs2823286 | Jostins et al., | IBD | 0 |
| 21 | 34.77 | rs2284553 | Jostins et al., | CD | IFNGR2,IFNAR1,IFNAR2,IL10RB,GART,TMEM50 B,(6) |
| 21 | 40.46 | rs2836878 | Jostins et al., | IBD | (3) |
| 21 | 45.62 | rs7282490 | Jostins et al., | IBD | ICOSLG,(9) |
| 22 | 21.92 | rs2266959 | Jostins et al., | IBD | MAPK1,YDJC,UBE2L3,RIMBP3,CCDC116,(8) |
| 22 | 30.425 | rs2412970 | Jostins et al., | IBD | LIF,OSM,MTMR3,(8) |
| 22 | 39.69 | rs2413583 | Jostins et al., | IBD | ATF4,TAB1,APOBEC3G,(16) |
| 22 | 41.87 | rs727563 | Liu et al., | CD | TEF, NHP2L1, PMM1, L3MBTL2, CHADL |
Parentheses refer to the number of additional genes in the locus.