pISSN 2234-3806eISSN 2234-3814
Table. 1.
Pharmacogenetic target gene–drug pairs with concordantly strong levels of evidence according to the CPIC and PharmGKB databases
| Gene | Drugs | Category | CPIC level (status) | PharmGKB LOE | FDA Label* | Publications (PMIDs) |
|---|---|---|---|---|---|---|
| ABCG2 | Rosuvastatin | Metabolism/PK, toxicity | A (final) | 1A | 35152405 | |
| CACNA1S | Desflurane, enflurane, isoflurane, sevoflurane, succinylcholine | Toxicity | A (final) | 1A | Actionable PGx | 30499100 |
| Halothane, methoxyflurane | Toxicity | A (final) | 1A | 30499100 | ||
| CFTR | Ivacaftor | Efficacy | A (final) | 1A | Testing required | 24598717 |
| CYP2B6 | Efavirenz | Metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 31006110 |
| Sertraline | Metabolism/PK | B (final) | 1A | 37032427 | ||
| CYP2C19 | Amitriptyline | Metabolism/PK | A (final) | 1A | 23486447; 27997040 | |
| Citalopram, escitalopram | Metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 25974703; 37032427 | |
| Clomipramine, imipramine, trimipramine | Metabolism/PK | B (final) | 1A | 23486447; 27997040 | ||
| Clopidogrel | Efficacy, metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 21716271; 23698643; 35034351 | |
| Dexlansoprazole | Metabolism/PK | B (final) | 1A | Actionable PGx | 32770672 | |
| Doxepin | Metabolism/PK | B (final) | 1A | Actionable PGx | 23486447; 27997040 | |
| Lansoprazole | Efficacy, metabolism/PK | A (final) | 1A | 32770672 | ||
| Lornoxicam | Metabolism/PK | A (final) | 1A | 32189324 | ||
| Omeprazole, pantoprazole | Efficacy, metabolism/PK | A (final) | 1A | Actionable PGx | 32770672 | |
| Sertraline | Metabolism/PK | A (final) | 1A | 25974703; 37032427 | ||
| Voriconazole | Metabolism/PK | A (final) | 1A | Actionable PGx | 27981572 | |
| CYP2C9 | Celecoxib, flurbiprofen, meloxicam, piroxicam | Metabolism/PK | A (final) | 1A | Actionable PGx | 32189324 |
| Fluvastatin | Metabolism/PK, toxicity | A (final) | 1A | 35152405 | ||
| Ibuprofen, lornoxicam, tenoxicam | Metabolism/PK | A (final) | 1A | 32189324 | ||
| Phenytoin | Metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 25099164; 32779747 | |
| Siponimod | Metabolism/PK | A (provisional) | 1A | Testing required | 29273968 | |
| Warfarin | Dosage, toxicity | A (final) | 1A | Actionable PGx | 21900891; 28198005 | |
| CYP2D6 | Amitriptyline, nortriptyline | Metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 23486447; 27997040 |
| Atomoxetine | Metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 30801677 | |
| Clomipramine, desipramine, doxepin, fluvoxamine, imipramine, trimipramine | Dosage, metabolism/PK, toxicity | B (final) | 1A | Actionable PGx | 23486447; 27997040 | |
| Codeine | Efficacy, metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 22205192; 24458010; 33387367 | |
| Hydrocodone | Efficacy, metabolism/PK | B (final) | 1A | 33387367 | ||
| Ondansetron | Efficacy | A (final) | 1A | Informative PGx | 28002639 | |
| Paroxetine | Metabolism/PK | A (final) | 1A | 25974703; 37032427 | ||
| Tamoxifen | Efficacy, metabolism/PK | A (final) | 1A | Actionable PGx | 29385237 | |
| Tramadol | Efficacy, metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 33387367 | |
| Tropisetron | Efficacy, metabolism/PK | A (final) | 1A | 28002639 | ||
| Venlafaxine | Metabolism/PK, toxicity | B (final) | 1A | Actionable PGx | 37032427 | |
| Vortioxetine | Metabolism/PK | A (final) | 1A | Actionable PGx | 37032427 | |
| CYP3A5 | Tacrolimus | Dosage, metabolism/PK | A (final) | 1A | 25801146 | |
| CYP4F2 | Warfarin | Dosage | A (final) | 1A | 21900891; 28198005 | |
| DPYD | Capecitabine | Toxicity | A (final) | 1A | Testing recommended | 23988873; 29152729 |
| Fluorouracil | Toxicity, other | A (final) | 1A | Actionable PGx | 23988873; 29152729 | |
| G6PD | Rasburicase | Toxicity | A (final) | 1A | Testing required | 24787449; 36049896 |
| HLA-A | Carbamazepine ( |
Toxicity | A (final) | 1A | Actionable PGx | 23695185; 29392710 |
| HLA-B | Abacavir ( |
Toxicity | A (final) | 1A | Testing required | 24561393; 22378157 |
| Allopurinol ( |
Toxicity | A (final) | 1A | Testing recommended | 23232549; 26094938 | |
| Carbamazepine ( |
Toxicity | A (final) | 1A | Testing recommended | 23695185; 29392710 | |
| Phenytoin ( |
Toxicity | A (final) | 1A | Actionable PGx | 25099164; 32779747 | |
| IFNL3 | Peginterferon alfa-2a | Efficacy | A (final) | 1B | 24096968 | |
| Peginterferon alfa-2b | Efficacy | A (final) | 1B | Actionable PGx | 24096968 | |
| IFNL4 | Peginterferon alfa-2a, peginterferon alfa-2b | Efficacy | A (final) | 1B | 23291588; 24205831; 24748394 | |
| MT-RNR1 | Amikacin, gentamicin, streptomycin, tobramycin | Toxicity | A (final) | 1A | Actionable PGx | 34032273 |
| Dibekacin, kanamycin, netilmicin, ribostamycin | Toxicity | A (final) | 1A | 34032273 | ||
| NAT2 | Isoniazid | Toxicity | C |
1B | 18330759; 18421452; 20392357 | |
| NUDT15 | Azathioprine, mercaptopurine | Dosage, toxicity | A (final) | 1A | Testing recommended | 21270794; 23422873; 30447069 |
| RYR1 | Desflurane, enflurane, isoflurane, sevoflurane, succinylcholine | Toxicity | A (final) | 1A | Actionable PGx | 30499100 |
| Halothane, methoxyflurane | Toxicity | A (final) | 1A | 30499100 | ||
| SLCO1B1 | Atorvastatin, fluvastatin, lovastatin, pitavastatin, pravastatin | Metabolism/PK, toxicity | A (final) | 1A | 35152405 | |
| Rosuvastatin | Metabolism/PK, toxicity | A (final) | 1A | Actionable PGx | 35152405 | |
| Simvastatin | Metabolism/PK, toxicity | A (final) | 1A | 22617227; 24918167; 35152405 | ||
| TPMT | Azathioprine, mercaptopurine, thioguanine | Dosage, metabolism/PK, toxicity | A (final) | 1A | Testing recommended | 21270794; 23422873; 30447069 |
| UGT1A1 | Atazanavir | Toxicity | A (final) | 1A | 26417955 | |
| Irinotecan | Dosage, toxicity | A (provisional) | 1A/1B | Testing recommended | 28502040; 36443464 | |
| VKORC1 | Warfarin | Dosage, toxicity | A (final) | 1A | Actionable PGx | 21900891; 28198005 |
(https://cpicpgx.org/ and https://www.pharmgkb.org/ assessed on Aug 1st 2024)
*PharmGKB provides “drug label PGx level” based on FDA drug labels, for which criteria and detailed explanations are provided in [28].
†Validity of NAT2-isoniazid pair as PGx target was confirmed by the authors despite current Level C provisional annotation by the CPIC.
Abbreviations: CPIC, Clinical Pharmacogenetics Implementation Consortium; LOE, level of evidence; PGx, pharmacogenetics; PK, pharmacokinetics; PMID, PubMed identifier.
Ann Lab Med 2025;45:121~132 https://doi.org/10.3343/alm.2024.0572
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