Table 1 Alleles frequencies among FVG, 1000G and ExAC (Non Finnish European population) data of a selected list of SNPs reported as associated with specific drugs in the PharmGkB database
Snp id (gene) | Drugs (reported as related by PharmGKB database) | Alleles | Af_FVG | Af_1000G_EUR | Af_ExAC_NFE | Samples | p value vs EUR | p value vs ExAC |
|---|---|---|---|---|---|---|---|---|
rs3918290 (DPYD) | Capecitabine | T/C | 0.0006325 | 0.01 | 0.0058 | 1581 | 2.062E−05 | 2.20E−04 |
rs1136201 (ERBB2) | Trastuzumab | G/A | 0.1692 | 0.25 | 0.2396 | 1581 | 3.562E−05 | 2.37E−13 |
rs2369049 (TCL1A) | Exemestane | G/A | 0.1111 | 0.17 | NA | 1580 | 1.411E−04 | NA |
rs4244285 (CYP2C19) | Doxorubicin, cyclophosphamide, tamoxifen | A/G | 0.08485 | 0.15 | 0.1477 | 330 | 1.077E−03 | 7.27E−05 |
rs714368 (SLC22A16) | Doxorubicin, doxorubicinol | C/T | 0.2726 | 0.21 | 0.2218 | 1590 | 6.932E−03 | 1.73E−07 |
rs776746 (CYP3A5) | Tamoxifen | T/C | 0.08055 | 0.05 | NA | 1589 | 8.936E−03 | NA |
rs1801274 (FCGR2A) | Trastuzumab, doxorubicin, paclitaxel, cyclophosphamide | G/A | 0.4195 | 0.5 | 0.4942 | 1590 | 1.457E−02 | 9.20E−07 |
rs4880 (SOD2) | Cyclophosphamide | G/A | 0.5452 | 0.46 | 0.5162 | 1581 | 1.877E−02 | 7.81E−02 |
rs1801159 (DPYD) | Capecitabine | C/T | 0.217 | 0.17 | 0.1978 | 1581 | 2.155E−02 | 3.36E−02 |
rs2072671 (CDA) | Capecitabine | C/A | 0.397 | 0.33 | 0.3427 | 1587 | 2.326E−02 | 1.79E−05 |
rs2297595 (DPYD) | Fluorouracil, capecitabine | C/T | 0.09077 | 0.12 | 0.1027 | 1581 | 3.256E−02 | 5.40E−02 |
rs1048943 (CYP1A1) | Docetaxel, capecitabine | C/T | 0.06839 | 0.04 | 0.0332 | 1581 | 2.374E−02 | 5.66E−18 |
rs6214 (IGF1) | Tamoxifen | T/C | 0.3518 | 0.41 | NA | 1589 | 4.746E−02 | NA |
rs1695 (GSTP1) | Docetaxel, epirubicin, fluorouracil, doxorubicin, cyclophosphamide | G/A | 0.2761 | 0.32 | 0.3191 | 1590 | 8.264E−02 | 2.11E−04 |
rs12210538 (SLC22A16) | Doxorubicin, cyclophosphamide | G/A | 0.2125 | 0.25 | 0.2351 | 1581 | 8.411E−02 | 2.11E−02 |
rs9024 (CBR1, SETD4) | Doxorubicin, doxorubicinol | A/G | 0.1243 | 0.1 | NA | 1585 | 1.116E−01 | NA |
rs7349683 (EPHA5) | Paclitaxel | T/C | 0.4169 | 0.37 | 0.3588 | 1589 | 1.312E−01 | 8.26E−06 |
rs45589337 (DPYD) | Cyclophosphamide, fluorouracil, methotrexate | C/T | 0.004744 | 0.01 | 0.0155 | 1581 | 1.504E−01 | 2.90E−06 |
rs10509373 (C10orf11) | Tamoxifen | C/T | 0.469 | 0.42 | NA | 1258 | 1.544E−01 | NA |
rs1056836 (CYP1B1) | Docetaxel, paclitaxel, taxanes | G/C | 0.5728 | 0.63 | 0.5675 | 1580 | 1.551E−01 | 7.69E−01 |
rs723685 (SLC22A16) | Doxorubicin, cyclophosphamide | G/A | 0.1069 | 0.09 | 0.0886 | 1590 | 2.396E−01 | 1.28E−03 |
rs1143684 (NQO2) | Doxorubicin, cyclophosphamide | T/C | 0.7434 | 0.8 | 0.787 | 1588 | 2.401E−01 | 4.18E−02 |
rs9561778 (ABCC4) | Doxorubicin, cyclophosphamide, fluorouracil | T/G | 0.2085 | 0.18 | NA | 331 | 2.943E−01 | NA |
rs2032582 (ABCB1) | Anthracyclines and related substances, paclitaxel, doxorubicin, cyclophosphamide, taxanes | C/A | 0.6091 | 0.57 | 0.5523 | 1581 | 3.374E−01 | 9.99E−04 |
rs8133052 (CBR3) | Doxorubicin | A/G | 0.4817 | 0.45 | 0.5904 | 1587 | 3.647E−01 | 5.46E−09 |
rs2290272 (SLC28A1) | Capecitabine | A/G | 0.3569 | 0.38 | 0.3466 | 1590 | 4.403E−01 | 4.20E−01 |
rs1128503 (ABCB1) | Doxorubicin | G/A | 0.5317 | 0.57 | 0.5726 | 331 | 4.631E−01 | 2.78E−01 |
rs351855 (FGFR4) | Cyclophosphamide, fluorouracil, methotrexate | A/G | 0.309 | 0.29 | 0.3029 | 1581 | 4.805E−01 | 6.06E−01 |
rs7136446 (IGF1) | tamoxifen | T/C | 0.6372 | 0.61 | NA | 1589 | 5.265E−01 | NA |
rs1801133 (CLCN6,MTHFR) | Cyclophosphamide, fluorouracil | A/G | 0.3674 | 0.35 | 0.345 | 1584 | 5.661E−01 | 7.67E−02 |
rs1045642 (ABCB1) | Idarubicin, taxanes, cyclophosphamide, fluorouracil, epirubicin, anthracyclines and related substances, doxorubicin, paclitaxel, cytarabine, tamoxifen | G/A | 0.4894 | 0.47 | 0.4719 | 331 | 6.992E−01 | 6.17E−01 |
rs717620 (ABCC2) | Tamoxifen | T/C | 0.2009 | 0.21 | 0.1993 | 331 | 7.801E−01 | 9.71E−01 |
rs3740065 (ABCC2) | Tamoxifen | G/A | 0.1163 | 0.11 | NA | 331 | 8.022E−01 | NA |
rs1800566 (NQO1) | Fluorouracil, epirubicin doxorubicin, cyclophosphamide | A/G | 0.2044 | 0.2 | 0.188 | 1590 | 8.642E−01 | 6.10E−02 |
rs4646 (CYP19A1) | Letrozole | C/A | 0.7221 | 0.71 | 0.7481 | 331 | 8.697E−01 | 5.78E−01 |
rs9322336 (ESR1) | Exemestane | T/C | 0.7825 | 0.77 | NA | 331 | 8.729E−01 | NA |
rs8060157 (ZNF423) | Tamoxifen, raloxifene | G/A | 0.5548 | 0.56 | NA | 1258 | 9.202E−01 | NA |
rs1056892 (CBR3) | Doxorubicin | A/G | 0.3566 | 0.36 | 0.3481 | 1590 | 9.352E−01 | 5.05E−01 |
rs10509681 (CYP2C8) | Paclitaxel | C/T | 0.1086 | 0.11 | 0.1132 | 1589 | 9.719E−01 | 4.89E−01 |
rs20572 (CBR1, SETD4) | Doxorubicin, doxorubicinol | T/C | 0.0997 | 0.1 | 0.1144 | 331 | 1.00 | 3.18E−01 |