Table 2.
Association between UC and known CD loci.
GWA STUDIES | REPLICATION | GWA + REPLICATION | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
| ||||||||||||
Gene of interest | SNP from Barrett et al. | Chr# | CD meta p-value (Barrett et al.) | CEDARS | SWEDEN | NIDDK | Combined | ITALIAN | DUTCH | Combined | P-value | Notes |
IL23R | rs11465804 | 1p31 | 6.38E-34 | 7.28E-04 | 1.47E-03 | 3.10E-05 | 5.91E-10 | 0.012 | 1.32E-03 | 5.18E-05 | 1.89E-13 | 1,2,4,5 |
ATG16L1 | rs3828309 | 2q37 | 2.57E-21 | 0.24 | 0.18 | 0.25 | 0.57 | 0.28 | 0.63 | 0.67 | 0.48 | 1 |
MST1 | rs3197999 | 3p21 | 2.17E-07 | 4.55E-03 | 2.00E-04 | 0.07 | 1.36E-06 | 1.90E-04 | 0.28 | 6.67E-04 | 3.76E-09 | 4 |
PTGER4 | rs4613763 | 5p13 | 5.02E-22 | 0.57 | 0.62 | 0.0049 | 0.11 | 0.048 | 1.58E-03 | 2.81E-04 | 4.21E-04 | |
IBD5 | rs2188962 | 5q31 | 4.58E-09 | 0.14 | 0.40 | 0.32 | 0.35 | 0.044 | 2.50E-03 | 3.68E-04 | 2.90E-03 | 2 |
IRGM | rs13361189 | 5q33 | 8.17E-11 | - | - | - | N/A | 0.015 | 4.78E-05 | 4.33E-06 | N/A | |
TNFSF15 | rs4263839 | 9q32 | 2.61E-07 | 0.024 | 0.42 | 0.56 | 0.035 | 0.2996 | 2.85E-04 | 9.72E-04 | 2.01E-04 | 1,2 |
ZNF365 | rs10995271 | 10q21 | 1.56E-07 | 0.024 | 0.73 | 0.89 | 0.24 | 0.1852 | 0.96 | 0.34 | 0.127 | 1 |
NKX2-3 | rs11190140 | 10q24 | 1.71E-10 | 8.84E-04 | 0.028 | 0.058 | 1.85E-05 | 7.61E-06 | 0.37 | 1.45E-04 | 1.07E-08 | |
NOD2 (R702W) | rs2066844 | 16q12 | N/A | - | - | - | N/A | 0.25 | 0.64 | 0.25 | N/A | |
NOD2 (G908R) | rs2066845 | 16q12 | N/A | - | - | - | N/A | 0.69 | 0.017 | 0.049 | N/A | |
NOD2 (insC) | rs2066847 | 16q12 | N/A | - | - | - | N/A | 0.90 | 0.077 | 0.18 | N/A | |
NOD2 (R459R) | rs2066843 | chr16 | 1.20E-27 | 0.36 | 0.99 | 0.62 | 0.41 | - | - | N/A | N/A | 3 |
PTPN2 | rs2542151 | 18p11 | 6.54E-11 | 0.14 | 0.57 | 0.75 | 0.17 | 0.98 | 0.17 | 0.32 | 091 | 1 |
PTPN22 | rs2476601 | 1p13 | 1.81E-05 | 0.11 | 0.32 | 0.096 | 0.19 | 0.25 | 0.15 | 0.067 | 0.88 | |
ITLN1 | rs2274910 | 1q23 | 3.51E-07 | 0.11 | 0.15 | 0.24 | 0.45 | 0.51 | 0.52 | 0.36 | 0.24 | 2 |
- | rs9286879 | 1q24 | 4.01E-07 | 0.90 | 0.75 | 0.85 | 0.71 | 0.19 | 0.063 | 0.70 | 0.60 | |
KIF21B | rs11584383 | 1q32 | 1.94E-06 | 0.16 | 0.024 | 8.50E-02 | 1.88E-03 | 0.020 | 1.08E-04 | 1.17E-05 | 2.22E-07 | 1 |
IL12B | rs10045431 | 5q33 | 8.81E-09 | - | - | - | N/A | 0.024 | 0.023 | 1.39E-03 | N/A | |
CDKAL1 | rs6908425 | 6p22 | 2.53E-07 | 0.49 | 0.61 | 0.17 | 0.14 | 0.29 | 0.97 | 0.44 | 0.51 | |
ATG5 | rs7746082 | 6q21 | 3.13E-04 | 0.069 | 5.68E-03 | 0.042 | 1.34E-04 | 0.23 | 0.88 | 0.46 | 6.08E-04 | 1 |
CCR6 | rs2301436 | 6q27 | 3.29E-07 | 0.044 | 0.16 | 0.094 | 3.30E-03 | 0.38 | 0.28 | 0.89 | 0.029 | |
IKZF1 | rs1456893 | 7p12 | 3.16E-05 | 0.93 | 0.66 | 0.53 | 0.960 | 0.15 | 1.14E-03 | 9.05E-04 | 0.040 | 1 |
- | rs1551398 | 8q24 | 4.90E-06 | 0.57 | 0.32 | 0.73 | 0.27 | 4.24E-04 | 0.057 | 0.25 | 0.90 | 2 |
JAK2 | rs10758669 | 9p24 | 6.80E-07 | 0.023 | 0.028 | 0.49 | 2.88E-03 | 8.17E-04 | 0.023 | 7.06E-05 | 1.42E-06 | |
CUL2/CREM | rs17582416 | 10p11 | 2.21E-05 | 0.69 | 0.028 | 0.92 | 0.15 | 0.032 | 0.45 | 0.040 | 0.016 | 1,2 |
C11orf30 | rs7927894 | 11q13 | 1.43E-07 | 0.021 | 0.79 | 0.062 | 0.010 | 0.20 | 0.69 | 0.23 | 0.22 | 1 |
LRRK2, MUC19 | rs11175593 | 12q12 | 1.33E-07 | - | - | - | N/A | 0.071 | 0.77 | 0.28 | N/A | |
- | rs3764147 | 13q14 | 1.44E-05 | 0.27 | 0.010 | 0.041 | 0.34 | 0.59 | 0.76 | 0.55 | 0.27 | 1 |
ORMDL3 | rs2872507 | 17q21 | 2.13E-06 | 3.93E-04 | 8.45E-04 | 0.18 | 2.06E-06 | 0.19 | 4.29E-03 | 3.22E-03 | 3.01E-08 | 1,4 |
STAT3 | rs744166 | 17q21 | 5.94E-06 | 0.35 | 0.77 | 0.012 | 0.031 | 0.40 | 0.084 | 0.069 | 4.83E-03 | |
- | rs1736135 | 21q21 | 3.28E-05 | 0.36 | 0.053 | 5.90E-04 | 2.88E-04 | 0.60 | 8.21E-07 | 1.15E-04 | 1.54E-07 | 1 |
ICOSLG | rs762421 | chr21 | 1.08E-05 | - | - | - | N/A | 1.70E-03 | 0.59 | 9.32E-03 | N/A | 2 |
- | rs4807569 | 19p13 | 1.30E-08 | 0.99 | 0.53 | 0.058 | 0.15 | - | - | N/A | 1,3 | |
GCKR | rs780094 | 2p23 | 7.24E-05 | 0.70 | 0.95 | 0.18 | 0.30 | 0.29 | 0.47 | 0.81 | 0.81 | 2 |
BTNL2, SLC26A3, HLA-DRB1, HLA-DQA1 | rs3763313 | 6p21 | 1.45E-08 | 0.015 | 0.20 | 0.25 | 5.05E-03 | 0.020 | 0.71 | 0.17 | 0.19 | |
PUS10 | rs13003464 | 2p16 | 7.65E-06 | 0.012 | 2.41E-03 | 9.50E-05 | 4.67E-08 | 0.21 | 0.027 | 0.014 | 7.40E-09 | 4 |
CCL2, CCL7 | rs991804 | 17q12 | 4.01E-06 | 0.52 | 0.060 | 0.46 | 0.25 | 0.013 | 0.028 | 9.33E-04 | 2.88E-03 | 2 |
LYRM4 | rs12529198 | 6p25 | 7.08E-07 | - | - | - | N/A | 0.23 | 0.78 | 0.51 | N/A | |
SLC22A23 | rs17309827 | 6p25 | 2.08E-06 | - | - | - | N/A | - | - | N/A | N/A | 3 |
- | rs7758080 | 6q25 | 7.28E-06 | 0.67 | 0.18 | 0.54 | 0.38 | 0.50 | 0.079 | 0.44 | 0.84 | |
- | rs8098673 | 18q11 | 3.17E-05 | 0.97 | 0.86 | 0.92 | 0.89 | 0.16 | 0.29 | 0.81 | 0.96 | |
IL18RAP | rs917997 | 2q11 | 2.17E-05 | 0.58 | 0.58 | 0.012 | 0.15 | 0.35 | 0.026 | 0.025 | 0.011 |
Notes:
= Highly correlated proxies were evaluated in the UC GWA studies (See Supplementary Table 2 for further details)
= Highly correlated proxies were typed in the Replication Stage (See Supplementary Table 2 for further details)
= SNP assays failed to design or failed genotyping in Replication Stage
= also reported in Table 1
= rs11465804 was captured by the highly correlated proxy rs11209026 in both scan and replication (Table q and Supplementary Table 2)