Table 2.
Pharmacogenes with satisfactory evidence of drug response associations based on CPIC, PharmGKB and DPWG.
|
Genes (n = 50) |
Alleles/SNPs | Interacting drugs | Total no. of drugs |
|---|---|---|---|
| ABCG2 | rs2231142 (T) | Allopurinol, Rosuvastatin | 2 |
| ACE | rs1799752 (del) | Captopril | 1 |
| ADD1 | rs4961 (T) | Hydrochlorothiazide | 1 |
| ADRB2 | rs1042713 (A) | Salmeterol | 1 |
| APOE | rs7412 (C) | Atorvastatin | 1 |
| ATIC | rs4673993 (T) | Methotrexate | 1 |
| CACNA1S | rs772226819 (A), rs1800559 (T) |
Desflurane, Enflurane, Halothane, Isoflurane, Methoxyflurane, Sevoflurane, Succinylcholine | 7 |
| CES1 | rs71647871 (A) | Clopidogrel | 1 |
| CFTR | 34 SNPs | Ivacaftor | 1 |
| CHRNA5 | rs16969968 (A) | Nicotine | 1 |
| CPS1 | rs1047891 (A) | Valproic acid | 1 |
| CYP2A6 | *2, *4A, *7, *9A, *10, *12, *17, *19, *20, *24A, *26, *27, *28A | Nicotine | 1 |
| CYP2B6 | *4 [rs2279343 (G)], *6 [rs3745274 (T)+ rs2279343 (G)] | Bupropion, Methadone | 4 |
| rs3745274 (T), *6, rs28399499 (C), *18 [rs3745274 (T) + rs28399499 (C)], *26 [*6+rs3826711 (G)] | Efavirenz | ||
| rs3745274 (T), rs28399499 (C) | Nevirapine | ||
| CYP2C9 | rs1799853 (T, *2), rs1057910 (C, *3) | Acenocoumarol, Celecoxib, Flurbiprofen, fluvastatin, Fosphenytoin, Ibuprofen, Lornoxicam, Meloxicam, Phenytoin, Piroxicam, Siponimod, Tenoxicam, Warfarin | 13 |
| CYP2C19 | rs4244285 (A, *2), rs4986893 (A, *3), rs12248560 (T, *17) | Amitriptyline, Citalopram, Clomipramine, Clopidogrel, Dexlansoprazole, Doxepin, Escitalopram, Imipramine, Lansoprazole, Brivaracetam, Omeprazole, Pantoprazole, Rabeprazole, Sertraline, Trimipramine, Voriconazole | 16 |
| CYP2D6 | *3, *4, *5, *6, *9, *10, *17, *29 *41 or duplication | Amitriptyline, Aripiprazole, Atomoxetine, Clomipramine, Codeine, Desipramine, Doxepin, Eliglustat, Flecainide, Fluvoxamine, Haloperidol, Hydrocodone, Imipramine, Metoprolol, Mirtazapine, Nortriptyline, Oliceridine, Ondansetron, Oxycodone, Paroxetine, Pimozide, Pitolisant, Propafenon, Risperidone, Tamoxifen, Tetrabenazine, Tramadol, Trimipramine, Tropisetron, Venlafaxine, Vortioxetine, Zuclopenthixol | 32 |
| CYP3A4 | rs28371759 (G, *18), rs2242480 (T, *36) | Fentanyl | 3 |
| rs67666821 (TT, *20), rs35599367 (A, *22), | Quetiapine | ||
| rs4646437 (A), rs4986910 (G, *3), rs28371759 (G, *18), rs67666821 (TT, *20), rs35599367 (A, *22), rs2242480 (T, *36) | Tacrolimus | ||
| CYP3A5 | rs776746 (A, *1) | Tacrolimus | 1 |
| CYP4F2 | rs2108622 (T, *3) | Acenocoumarol, Phenprocoumon, Warfarin | 3 |
| DPYD | rs3918290 (A, *2A), rs55886062 (G, *13), rs56038477 (A), rs67376798 (T) | Capecitabine, Fluorouracil, Tegafur | 3 |
| EGFR | rs121434568 (T), rs121434569 (C) | Gefitinib | 2 |
| rs121434569 (C) | Erlotinib | ||
| FCGR3A | rs396991 (A) | Rituximab | 1 |
| FVL | rs6025 (A) | Contraceptives with Estrogen | 1 |
| GBA | 48 SNPs [e.g. rs76763715 (C), rs79653797 (G)] | Velaglucerase alfa | 1 |
| G6PD | 68 SNPs [e.g. rs1050829 (G), rs1050828 (A), rs5030868 (T)] | Aspirin, Chloramphenicol, Chlorpropamide, Ciprofloxacin, Dapsone, Dimercaprol, Glibenclamide, Glimepiride, Glipizide, Mafenide, Mesalazine, Methylene blue, Moxifloxacin, Nalidixic acid, Nitrofurantoin, Norfloxacin, Pegloticase, Phenazopyridine, Primaquine, Probenecid, Quinine, Rasburicase, Sodium nitrite, Sulfacetamide, Sulfadiazine, Sulfamethoxazole / Trimethoprim, Sulfasalazine, Sulfisoxazole, Tafenoquine | 29 |
| HLA-A | *31:01 | Carbamazepine | 2 |
| *33:03 | Allopurinol | ||
| HLA-B | *13:01 | Dapsone | 10 |
| *15:02 | Carbamazepine, Fosphenytoin, Lamotrigine, Oxcarbazepine, Phenytoin | ||
| *15:11 | Carbamazepine | ||
| *57:01 | Abacavir, Flucloxacillin | ||
| *58:01 | Allopurinol | ||
| *59:01 | Methazolamide | ||
| HLA-C | *03:01 | Allopurinol | 3 |
| *01:02 | Methazolamide | ||
| *04:01 | Nevirapine | ||
| HLA- DPB1 | *02:01 | Aspirin | 1 |
| HLA-DRB1 | *01:01 | Nevirapine | 1 |
| HPRT1 | del | Mycophenolic acid | 1 |
| IFNL3 (IL28B) | rs11881222 (rs368234815, G) | Peginterferon Alfa-2a, Peginterferon Alfa-2b, Ribavirin | 3 |
| IFNL4 | rs12979860 (T), rs11322783 (G), rs8099917 (G) | Boceprevir, Peginterferon Alpha-2a, Peginterferon Alpha-2b, Ribavirin, Telaprevir | 5 |
| ITPA | rs1127354 (C), rs7270101 (C) | Peginterferon Alpha-2b, Ribavirin | 2 |
| KIF6 | rs20455 (C) | Pravastatin | 1 |
| MTHFR | rs1801133 (G) | Methotrexate | 1 |
| MT-RNR1 | rs267606617 (G), rs267606619 (T) | Amikacin, Gentamicin, Kanamycin, Paromomycin, Plazomicin, Streptomycin, Tobramycin | 7 |
| NAGS | 29 SNPs | Carglumic acid, Valproic acid | 2 |
| NAT2 | 4 slow acetylator SNPs (*5, *6, *7, 14*), 3 rapid or intermediate acetylators (*4, *12, *13) | Hydralazine, Isoniazid | 2 |
| NUDT15 | rs116855232 (T) | Azathioprine, Mercaptopurine, Thioguanine | 3 |
| OTC | rs72554356 (T) | Valproic acid | 1 |
| POLG | rs2307441 (C) | Divalproex sodium, Valproic acid | 2 |
| RYR1 | 44 SNPs [e.g. rs111888148 (A), rs112563513 (A)] | Desflurane, Enflurane, Halothane, Isoflurane, Methoxyflurane, Sevoflurane, Succinylcholine | 7 |
| SCN1A | rs3812718 (T) | Carbamazepine, Phenytoin | 2 |
| SLC19A1 | rs1051266 (C) | Methotrexate | 1 |
| SLCO1B1 | rs4149056 (*5, C), rs2306283 (*1B, G) | Atorvastatin, Fluvastatin, Lovastatin, Pitavastatin, Pravastatin, Rosuvastatin, Simvastatin | 7 |
| TNF-α | rs1800629 (A) | Etanercept | 1 |
| TPMT | *2, *3A, *3B, *3C | Azathioprine, Mercaptopurine, Thioguanine | 3 |
| UGT1A1 | rs8175347 [(TA)7R, *28] | Atazanavir, Belinostat, Irinotecan, SN-38 | 4 |
| VKORC1 | rs9923231 (A, *2), rs7294 (C, *3), rs9934438 (A) | Warfarin | 1 |
*Star allele nomenclature given to identify genetic variants.