Table 1.
Independent genetic variants reaching genome-wide significant level in the subset-based meta-analysis and representing novel risk loci shared across vasculitides
| Region | Base pair | SNP | Gene | A1 | P value | Contributing disease | OR (95% CI) |
| 1p31.3 | 67 751 193 | rs11209039 | IL23R/IL12RB2 | G | 6.45E-10 | BD EGPA+KD | 0.81 (0.76 to 0.87) |
| 2q33.2 | 204 689 376 | rs62184865 | CTLA4 | T | 2.00E-08 | AAV EGPA+ | 1.72 (1.43 to 2.08) |
| 3p21.31 | 46 208 310 | rs2087726 | CCR3 | G | 1.04E-08 | BD IgAV | 0.81 (0.75 to 0.87) |
| 4p16.2 | 824 988 | rs4690319 | CPLX1 | A | 4.72E-09 | BD TAK | 0.82 (0.77 to 0.88) |
| 5q31.1 | 131 540 875 | rs128738 | P4HA2 | T | 2.78E-09 | EGPA- GCA | 1.32 (1.20 to 1.44) |
| 5q31.1 | 131 797 547 | rs6894249 | IRF1 | G | 7.81E-09 | EGPA+ EGPA- | BD KD TAK | 1.40 (1.21 to 1.61) | 0.85 (0.83 to 0.94) |
| 5q33.3 | 158 777 001 | rs7725339 | IL12B | T | 1.84E-10 | BD EGPA+ TAK | 1.24 (1.15 to 1.32) |
| 5q33.3 | 158 834 367 | rs60689680 | IL12B* | T | 4.62E-08 | IgAV TAK | EGPA- | 1.32 (1.19 to 1.45) | 0.80 (0.69 to 0.95) |
| 6q26 | 161 143 608 | rs4252120 | PLG | C | 2.65E-08 | EGPA- GCA | 1.28 (1.17 to 1.39) |
| 8p21.2 | 27 219 987 | rs73223431 | PTK2B | T | 1.66E-08 | EGPA+TAK | 0.73 (0.66 to 0.82) |
| 10q21.2 | 64 396 042 | rs10995248 | ZNF365/ADO | T | 2.10E-08 | AAV BD | EGPA+GCA IgAV | 1.16 (1.08 to 1.24) | 0.84 (0.77 to 0.91) |
| 21q22.2 | 40 465 178 | rs2242944 | chr21q22 | A | 1.30E-10 | EGPA- TAK | 0.75 (0.68 to 0.82) |
*Novel signals within previously known loci. Diseases included in the best subset and for which identified associations have not been previously reported are shown in bold.
A1, alternative allele used in the logistic regression; AAV, ANCA-associated vasculitis; BD, Behçet’s disease; EGPA+, ANCA-positive eosinophilic granulomatosis with polyangiitis; EGPA-, ANCA-negative eosinophilic granulomatosis with polyangiitis; GCA, giant cell arteritis; IgAV, IgA vasculitis; KD, Kawasaki’s disease; TAK, Takayasu arteritis.