Table 3. . Validation of published variants for tacrolimus trough concentrations in European–American and African–American cohorts in the Deterioration of Kidney Allograft Function genomics study.
| rs_id | Gene | Variant | EA | AA | EA | AA | ||
|---|---|---|---|---|---|---|---|---|
| Freq.† | Freq.† | Beta | p-value | Beta | p-value | |||
| rs11265572 | NR1I3 | g.161243273G>T | 0.001 | 0.004 | NA | NA | NA | NA |
| rs1800872 | IL10 | -592C>A | 0.236 | 0.398 | -0.039 | 0.066 | -0.014 | 0.735 |
| rs1800871 | IL10 | -819C>T | 0.236 | 0.398 | -0.039 | 0.066 | -0.014 | 0.735 |
| rs1800896 | IL10 | -1082G>A | 0.498 | 0.356 | 0.022 | 0.218 | 0.016 | 0.707 |
| rs16840252‡ | CTLA4 | 0.191 | 0.171 | 0.01 | 0.655 | -0.113 | 0.032 | |
| rs3814055 | NR1I2 | -25385T>C | 0.383 | 0.283 | -0.017 | 0.352 | -0.026 | 0.558 |
| rs6785049 | NR1I2 | 7635A/G | 0.389 | 0.095 | 0.023 | 0.218 | 0.06 | 0.384 |
| rs3814057‡ | NR1I2 | 8055C>T | 0.19 | 0.441 | 0.016 | 0.478 | 0.03 | 0.467 |
| rs657075‡ | IL3 | 0.099 | 0.031 | 0.054 | 0.075 | 0.027 | 0.802 | |
| rs1524107‡ | IL6 | c.-636G>C | 0.052 | 0.066 | -0.074 | 0.075 | -0.035 | 0.656 |
| rs1057868 | POR | *28 | 0.277 | 0.201 | 0.009 | 0.657 | 0.044 | 0.375 |
| rs2235048‡ | ABCB1 | 3435C/T | 0.458 | 0.202 | 0.006 | 0.758 | 0.075 | 0.134 |
| rs4148738‡ | ABCB1 | 2677G/T/A | 0.442 | 0.235 | 0.01 | 0.587 | 0.062 | 0.201 |
| rs117937072‡ | ABCB1 | 1199G/A | 0.041 | 0.009 | -0.01 | 0.817 | NA | NA |
| rs1128503 | ABCB1 | 1236C/T | 0.427 | 0.202 | 0.014 | 0.455 | 0.066 | 0.19 |
| rs9282564 | ABCB1 | 61A/G | 0.108 | 0.004 | 0.001 | 0.968 | NA | NA |
| rs3213619 | ABCB1 | -129T/C | 0.036 | 0.076 | -0.036 | 0.462 | -0.053 | 0.466 |
| rs41303343 | CYP3A5 | *7 | 0 | 0.109 | NA | NA | 0.361 | 1.18E-09 |
| rs10264272 | CYP3A5 | *6 | 0.001 | 0.123 | NA | NA | 0.067 | 0.269 |
| rs4646450 | CYP3A5 | 0.156 | 0.133 | -0.305 | 3.46E-38 | 0.271 | 4.91E-07 | |
| rs776746 | CYP3A5 | *3 | 0.068 | 0.29 | -0.657 | 6.08E-98 | 0.299 | 2.34E-14 |
| rs2257401 | CYP3A7 | *2 | 0.087 | 0.46 | -0.538 | 1.46E-79 | 0.094 | 0.015 |
| rs2242480 | CYP3A4 | *1G | 0.094 | 0.254 | -0.487 | 8.55E-68 | 0.236 | 1.91E-08 |
| rs28371759 | CYP3A4 | *18B | 0 | 0.006 | NA | NA | NA | NA |
| rs4646437 | CYP3A4 | 0.11 | 0.263 | -0.405 | 5.63E-53 | 0.223 | 8.86E-08 | |
| rs35599367 | CYP3A4 | *22 | 0.057 | 0.004 | 0.339 | 4.81E-19 | NA | NA |
| rs2740574 | CYP3A4 | *1B | 0.037 | 0.346 | -0.464 | 1.74E-24 | 0.026 | 0.502 |
| rs1927907 | TLR4 | c.140 + 1757C>T | 0.13 | 0.226 | 0.034 | 0.209 | -0.064 | 0.172 |
| rs4986893 | CYP2C19 | *3 | 0 | 0.001 | NA | NA | NA | NA |
| rs12571421‡ | CYP2C19 | *2 | 0.153 | 0.177 | 0.02 | 0.428 | 0.026 | 0.603 |
| rs2273697 | ABCC2 | 1249G>A | 0.214 | 0.153 | 0.023 | 0.286 | 0.024 | 0.656 |
| rs3740066 | ABCC2 | 3972C>T | 0.359 | 0.257 | -0.018 | 0.331 | -0.057 | 0.197 |
| rs2070673 | CYP2E1 | c.-333A>T | 0.145 | 0.315 | 0.012 | 0.631 | -0.032 | 0.46 |
| rs2237991 | ABCC8 | c.2223–1720T>C | 0.252 | 0.332 | 0.027 | 0.195 | -0.039 | 0.349 |
| rs5744247 | IL18 | c.-8–372C>G | 0.108 | 0.023 | -0.002 | 0.933 | -0.171 | 0.197 |
| rs1946519‡ | IL18 | c.-838A>C | 0.399 | 0.332 | -0.003 | 0.861 | -0.038 | 0.378 |
| rs4149117 | SLCO1B3 | T334G | 0.147 | 0.387 | -0.014 | 0.591 | 0.093 | 0.022 |
| rs7311358 | SLCO1B3 | G699A | 0.145 | 0.393 | -0.012 | 0.632 | 0.084 | 0.037 |
| rs2306283 | SLCO1B1 | A388G | 0.406 | 0.206 | -0.007 | 0.708 | 0 | 0.994 |
| rs4149056 | SLCO1B1 | T521C | 0.156 | 0.024 | -0.022 | 0.371 | -0.052 | 0.684 |
| rs3745274 | CYP2B6 | *6 | 0.247 | 0.374 | -0.001 | 0.945 | -0.014 | 0.732 |
| rs2239393 | COMT | c.289 + 90A>G | 0.39 | 0.409 | -0.018 | 0.326 | 0.005 | 0.891 |
| rs4253730‡ | PPARA | c.209–1003G>A | 0.275 | 0.47 | 0.015 | 0.44 | 0.027 | 0.499 |
†MAF based on the cohort genotypes. Minor alleles are those which differ from the reference sequence.
‡ Proxy variant used (see Table 1).
AA: African–American; EA: European–American; MAF: Minor allele frequency; NA: Not analyzed due to low minor allele frequency.