Table III. Variants in of selected pain-related genes and VOC, and consultation and hospitalisation rates.
| Gene | dbSNP ID | Position | Allele Change(s) | MAF | VOC P values | Effect Size (SE) | Consultations P values | Effect Size (SE) | Hospitalisations P values | Effect Size (SE) |
|---|---|---|---|---|---|---|---|---|---|---|
| ABCB1 | rs1045642 | 87509329 | T>C | 0.153 | 0.065* | 0.152 (0.082) | 0.741 | 0.206 (0.623) | 0.417 | 0.386 (0.474) |
| ADRA1A | rs1048101 | 26770511 | T>C | 0.177 | 0.094 | 0.122 (0.058) | 0.297 | 0.656 (0.627) | 0.793 | 0.126 (0.477) |
| ADRA2A | rs3750635 | 5750220 | T>C | Monomorphic | NA | NA | NA | NA | NA | NA |
| ADRB2 | rs1042713 | 148826877 | A>G | 0.481 | 0.277 | -0.328 (0.057) | 0.00040 | -0.143 (0.045) | 0.25 | -0.38 (0.329) |
| ARRB2 | rs1045280 | 4719343 | C>T | 0.342 | 0.958 | -0.0033 (0.063) | 0.875 | -0.143 (0.0474) | 0.201 | -0.464 (0.360) |
| AVPR1A | rs10877969 | 63153459 | T>C | 0.221 | 0.072* | 0.101 (0.056) | 0.119 | 0.672 (0.428) | 0.061* | -0.168 (0.066) |
| BDKRB2 | rs1799722 | 96204802 | C>T | 0.253 | 0.64 | 0.034 (0.072) | 0.591 | -0.289 (0.537) | 0.399 | 0.344 (0.406) |
| CACNA2D3 | rs1851048 | 54587633 | C>T | 0.136 | 0.945 | -0.006 (0.086) | 0.633 | -0.315 (0.658) | 0.314 | 0.505 (0.499) |
| rs6777055 | 55039890 | A>C | 0.195 | 0.025* | -0.167 (0.074) | 0.964 | -0.0253 (0.562) | 0.008 | -0.181 (0.068) | |
| COMT | rs4633 | 19962712 | C>T | 0.239 | 0.732 | 0.0345 (0.100) | 0.122 | 1.185 (0.762) | 0.225 | -0.707 (0.580) |
| rs6269 | 19962429 | A>G | 0.44 | 0.575 | -0.0367 (0.065) | 0.788 | -0.134 (0.494) | 0.027* | 0.138 (0.042) | |
| rs4680 | 19963748 | G>A | 0.238 | 0.986 | 0.0018 (0.102) | 0.48 | -0.553 (0.780) | 0.264 | 0.667 (0.594) | |
| DRD2 | rs4274224 | 1.13E+08 | C>T | 0.262 | 0.037 | 0.148 (0.070) | 0.078 | 0.955 (0.537) | 0.091* | 0.695 (0.408) |
| FAAH | rs324419 | 46406314 | T>C | 0.128 | 0.663 | -0.557 (0.227) | 0.0760 | 1.245 (0.908) | 0.999 | 0.0012 (0.692) |
| rs2295632 | 46413890 | T>G | 0.249 | 0.916 | -0.0098 (0.093) | 0.295 | -0.733 (0.698) | 0.653 | 0.239 (0.530) | |
| rs4141964 | 46399368 | T>C | 0.264 | 0.0840 | 0.221 (0.122) | 0.058* | 0.165 (0.086) | 0.003* | -185 (0.042) | |
| KCNS1 | rs734784 | 45094986 | A>G | 0.469 | 0.010δ | -0.165 (0.045) | 0.581 | 0.265 (0.479) | 0.0020 | 0.229 (0.074) |
| OPRM1 | rs1799971 | 1.54E+08 | A>G | 0.001 | 0.64 | 0.299 (0.53) | 0.205 | -1.047 (0.040) | 0.031δ | -0.135 (0.044) |
| STAT6 | rs841718 | 57099213 | C>T | 0.317 | 0.79 | 0.0176 (0.066) | 0.358 | 0.465 (0.504) | 0.959 | -0.02 (0.381) |
| rs3024971 | 57099944 | A>C | 0.022 | 0.262 | 0.213 (0.190) | 0.35 | -1.347 (1.42) | 0.4 | 0.924 (1.10) | |
| TRPA1 | rs920829 | 72065468 | G>A | 0.304 | 0.078δ | -0.115 (0.050) | 0.91 | -0.0549 (0.485) | 0.312 | 0.373 (0.368) |
| TRPV1 | rs222747 | 3589906 | G>C | 0.088 | 0.907 | 0.0132 (0.112) | 0.4 | 0.722 (0.856) | 0.695 | 0.255 (0.650) |
| UGT2B7 | rs7438135 | 69095621 | G>A | 0.3 | 0.805 | 0.028 (0.062) | 0.0370 | -0.685 (0.043) | 0.209 | -0.459 (0.363) |
MAF: minor allele frequency; NA: not applicable; SE: standard error; VOC: vaso-occlusive painful crisis rate. Significant / borderline P values are bolded:
# = Codominant model,
*
= Dominant model,
0
= Recessive model,
δ
= Over dominant model; NA = not applicable; Bonferroni critical p-value <0.003.