Table 1 -. Pooled measures for associations between TYK2 rs280496, rs280500, rs280519, rs280523, rs2304256, rs12720270, rs12720356, rs34536443, and rs35018800 SNPs and susceptibility to autoimmune diseases.
| Inheritance model | n studies | n cases | n controls | I² % | Pooled OR (95 % CI) |
|---|---|---|---|---|---|
| rs280496 | |||||
| Allele contrast | 4 | 408 | 578 | 0.0 | 1.15 (0.89 - 1.49)* |
| Disease | |||||
| CD | 2 | 143 | 289 | 0.0 | 1.19 (0.80 - 1.76)* |
| UC | 2 | 265 | 289 | 0.0 | 1.12 (0.80 - 1.58)* |
| Dominant | 3 | 294 | 378 | 0.0 | 1.21 (0.86 - 1.70)* |
| rs280500 | |||||
| Allele contrast | 6 | 2 988 | 6 440 | 55.7 | 1.12 (0.95 - 1.31)** |
| rs280523 | |||||
| Allele contrast | 6 | 997 | 955 | 0.0 | 1.11 (0.87 - 1.41)* |
| Disease | |||||
| CD | 2 | 143 | 289 | 0.0 | 0.90 (0.51 - 1.57)* |
| UC | 2 | 265 | 289 | 0.0 | 1.07 (0.68 - 1.70)* |
| SLE | 2 | 589 | 377 | 0.0 | 1.21 (0.87 - 1.68)* |
| Ethnicity | |||||
| Asian | 4 | 408 | 578 | 0.0 | 1.00 (0.70 - 1.42)* |
| Caucasian | 2 | 589 | 377 | 0.0 | 1.21 (0.87 - 1.68)* |
| Dominant | 3 | 294 | 378 | 0.0 | 0.95 (0.60 - 1.49)* |
| rs280519 | |||||
| Allele contrast | 14 | 13 969 | 29 167 | 87.1 | 1.07 (0.96 - 1.20)** |
| Disease | |||||
| CD | 3 | 223 | 389 | 58.7 | 1.08 (0.74 - 1.57)** |
| UC | 2 | 265 | 289 | 0.0 | 1.21 (0.94 - 1.55)** |
| SLE | 8 | 6 733 | 16 973 | 38.5 | 1.10 (1.04 - 1.18)** |
| Pso | 1 | 6 748 | 11 516 | - | - |
| Ethnicity | |||||
| Asian | 8 | 1 868 | 2 538 | 34.4 | 1.08 (0.95 - 1.22)** |
| Caucasian | 6 | 12 101 | 25 245 | 94.2 | 1.07 (0.91 - 1.25)** |
| Recessive | 6 | 1 085 | 1 184 | 65.6 | 1.18 (0.80 - 1.75)** |
| Dominant | 6 | 1 085 | 1 184 | 0.0 | 0.84 (0.70 - 1.02)* |
| Additive | 6 | 618 | 629 | 41.8 | 0.89 (0.71 - 1.12)* |
| rs2304256 | |||||
| Allele contrast | 25 | 23 827 | 35 760 | 70.8 | 0.83 (0.77 - 0.88)** |
| Disease | |||||
| SLE | 12 | 7 315 | 11 736 | 72.9 | 0.77 (0.69 - 0.85)** |
| CD | 3 | 223 | 389 | 53.5 | 0.77 (0.52 - 1.15)** |
| UC | 2 | 265 | 289 | 0.0 | 0.84 (0.64 - 1.09)** |
| T1DM | 3 | 551 | 573 | 56.6 | 1.03 (0.77 - 1.38)** |
| MS | 3 | 12 312 | 20 010 | 0.0 | 0.84 (0.81 - 0.87)** |
| RA | 2 | 3 161 | 2 763 | 33.3 | 0.99 (0.89 - 1.09)** |
| Ethnicity | |||||
| Caucasian | 12 | 20 474 | 30 034 | 73.8 | 0.81 (0.75 - 0.87)** |
| Asian | 10 | 2 678 | 4 891 | 74.7 | 0.85 (0.71 - 1.01)** |
| Mixed Ethnicity | 3 | 675 | 835 | 31.6 | 0.87 (0.69 - 1.09)** |
| Recessive | 13 | 16 916 | 26 506 | 78.3 | 0.80 (0.65 - 0.98)** |
| Disease | |||||
| SLE | 4 | 3 759 | 5 545 | 88.5 | 0.62 (0.40 - 0.97)** |
| CD | 2 | 143 | 289 | 33.8 | 0.88 (0.45 - 1.75)** |
| UC | 1 | 151 | 89 | - | - |
| T1DM | 3 | 551 | 573 | 0.0 | 1.51 (0.97 - 2.34)** |
| MS | 3 | 12 312 | 20 010 | 0.0 | 0.79 (0.73 - 0.87)** |
| Ethnicity | |||||
| Caucasian | 4 | 14 794 | 24 134 | 83.7 | 0.64 (0.51 - 0.82)** |
| Asian | 7 | 1 815 | 2 053 | 80.7 | 0.87 (0.55 - 1.37)** |
| Mixed Ethnicity | 2 | 307 | 319 | 0.0 | 1.12 (0.54 - 2.30)** |
| Dominant | 14 | 16 996 | 26 606 | 45.0 | 0.78 (0.72 - 0.84)** |
| Disease | |||||
| SLE | 4 | 3 759 | 5 545 | 13.0 | 0.75 (0.67 - 0.83)** |
| CD | 3 | 223 | 389 | 63.9 | 0.60 (0.31 - 1.14)** |
| UC | 1 | 151 | 89 | - | - |
| T1DM | 3 | 551 | 573 | 49.8 | 0.93 (0.66 - 1.31)** |
| MS | 3 | 12 312 | 20 010 | 0.0 | 0.81 (0.77 - 0.85)** |
| Ethnicity | |||||
| Caucasian | 4 | 14 794 | 24 134 | 28.9 | 0.79 (0.75 - 0.83)** |
| Asian | 8 | 1 895 | 2 153 | 59.0 | 0.72 (0.55 - 0.95)** |
| Mixed Ethnicity | 2 | 307 | 319 | 56.0 | 0.82 (0.51 - 1.33)** |
| Additive | 13 | 10 778 | 15 955 | 72.2 | 0.68 (0.55 - 0.84)** |
| Disease | |||||
| SLE | 4 | 2 330 | 3 325 | 86.2 | 0.58 (0.34 - 0.99)** |
| CD | 2 | 103 | 164 | 0.0 | 0.43 (0.21 - 0.88)** |
| UC | 1 | 113 | 54 | - | - |
| T1DM | 3 | 345 | 334 | 0.0 | 1.45 (0.92 - 2.28)** |
| MS | 3 | 7 887 | 12 078 | 0.0 | 0.73 (0.67 - 0.80)** |
| Ethnicity | |||||
| Caucasian | 4 | 9 437 | 14 493 | 84.5 | 0.59 (0.46 - 0.75)** |
| Asian | 7 | 1 136 | 1 266 | 68.3 | 0.73 (0.46 - 1.16)** |
| Mixed Ethnicity | 2 | 205 | 196 | 0.0 | 1.03 (0.49 - 2.14)** |
| rs12720356 | |||||
| Allele contrast | 20 | 69 788 | 177 438 | 92.1 | 0.85 (0.77 - 0.94)** |
| Disease | |||||
| SLE | 9 | 6 360 | 20 668 | 49.9 | 0.75 (0.65 - 0.88)** |
| RA | 2 | 6 256 | 14 544 | 11.5 | 0.91 (0.83 - 1.00)** |
| IBD | 1 | 1 346 | 13 683 | - | - |
| CD | 1 | 19 085 | 34 213 | - | - |
| Pso | 4 | 10 240 | 40 419 | 63.2 | 0.71 (0.61 - 0.83)** |
| UC | 1 | 14 413 | 34 213 | - | - |
| MS | 2 | 12 088 | 19 698 | 0.0 | 0.85 (0.79 - 0.90)** |
| Recessive | 4 | 13 437 | 22 606 | 1.1 | 0.85 (0.64 - 1.13)* |
| Dominant | 4 | 13 437 | 22 606 | 34.2 | 0.82 (0.77 - 0.87)* |
| Additive | 4 | 11 787 | 19 301 | 4.4 | 0.83 (0.62 - 1.10)* |
| rs34536443 | |||||
| Allele contrast | 19 | 50 011 | 95 923 | 75.7 | 0.68 (0.61 - 0.76)** |
| Disease | |||||
| MS | 9 | 21 346 | 27 989 | 38.6 | 0.75 (0.67 - 0.83)** |
| RA | 3 | 5 818 | 14 894 | 62.4 | 0.83 (0.54 - 1.29)** |
| SLE | 4 | 12 041 | 27 735 | 25.4 | 0.50 (0.43 - 0.57)** |
| IBD | 1 | 1 346 | 13 687 | - | - |
| Pso | 1 | 126 | 507 | - | - |
| T1DM | 1 | 9 334 | 11 111 | - | - |
| Recessive | 4 | 13 180 | 20 905 | 67.1 | 0.35 (0.03 - 3.83)** |
| Dominant | 5 | 13 306 | 21 412 | 88.0 | 0.34 (0.21 - 0.56)** |
| Additive | 4 | 12 834 | 20 478 | 67.2 | 0.35 (0.03 - 3.88)** |
| rs12720270 | |||||
| Allele contrast | 9 | 2 792 | 5 184 | 30.2 | 0.92 (0.84 - 1.00)* |
| Ethnicity | |||||
| Asian | 3 | 1 380 | 3 274 | 0.0 | 0.92 (0.87 - 1.08)* |
| Caucasian | 5 | 1 044 | 1 394 | 51.7 | 0.84 (0.72 - 0.98)* |
| Mixed Ethnicity | 1 | 368 | 516 | - | - |
| rs35018800 | |||||
| Allele contrast | 8 | 61 241 | 163 386 | 18.0 | 0.60 (0.55 - 0.65)* |
Where significant heterogeneity was detected (I2 > 50 % and/or Q statistic P>0.1), the DerSimonian and Laird random effect model (REM)** was used to calculate OR (95 % CI) for each individual study and for the pooled effect; where heterogeneity was not significant, the fixed effect model (FEM)* was used for this calculation. CD: Crohn’s disease; IBD: inflammatory bowel disease; MS: multiple sclerosis; Pso: psoriasis; RA: rheumatoid arthritis; SLE: systemic lupus erythematosus; T1DM: type 1 diabetes mellitus; UC: ulcerative colitis.