Characteristics of IL-23R mutations determined in patients with ankylosing spondylitis
| Mutation | Function | Position | Homozygote major genotype | No. of homozygote major genotype | Heterozygote genotype | No. of heterozygote major genotype | Homozygote minor genotype | No. of homozygote minor genotype | p (genotype) | p (allelic) |
|---|---|---|---|---|---|---|---|---|---|---|
| 2824DelC | Intronic | – | –/– | 40 (97.6%) | –/DelC | 1 (2.4%) | DelC/DelC | 0 | 0.276 | 0.277 |
| 34251 GT | Exon skipping | – | GG | 35 (97.2%) | GT | 1 (2.8%) | TT | 0 | 0.245 | 0.246 |
| ALA(GCA)228ALA (GCC) | Aminoacid change ALA-ALA | 228 aa | GG | 40 (95.2%) | GC | 0 | CC | 2 (4.8%) | 0.126 | 0.0306 |
| ALA(GCT)364 GLY(GGT) | Aminoacid change ALA-GLY | 364 aa | CC | 37 (86%) | CG | 6 (14%) | GG | 0 | 0.074 | 0.085 |
| LEU(TTG)371PHE (TTC) | Aminoacid change LEU-PHE | 371 aa | GG | 42 (97.7%) | GC | 1 (2.3%) | CC | 0 | 0.288 | 0.284 |
| Tyr (TAT) 436 STOP (TAA) | Tyr-Stop | 436 aa | Tyr/Tyr | 43 (97.7%) | Tyr/STOP | 1 (2.3%) | STOP/STOP | 0 | 0.293 | 0.295 |
None of the mutation exist in control group.