Table 1.
Systematically selected clinically relevant variant alleles that reflect the complete set of actionable DPWG guidelines (58 variant alleles located in 14 pharmacogenes)
| Genes | Variant allele | Allele functional status | Drug for which actionable DPWG guideline is available |
|---|---|---|---|
| CYP2B6 | *6 | Decreased function or no function | Efavirenz |
| *9 | Decreased function or no function | ||
| *4 | Decreased function or no function | ||
| *16 | Decreased function or no function | ||
| *18 | Decreased function or no function | ||
| *5 | Decreased function or full function | ||
| CYP2C9 | *2 | Decreased function |
Phenytoin Warfarin |
| *3 | Decreased function | ||
| *5 | Decreased function | ||
| *11 | Decreased function | ||
| CYP2C19 | *2 | No function |
Clopidogrel Citalopram Escitalopram Sertraline Imipramine Lansoprazole Omeprazole Pantoprazole Voriconazole |
| *3 | No function | ||
| *4A/B | No function | ||
| *5 | No function | ||
| *6 | No function | ||
| *8 | Decreased function or no function | ||
| *9 | Decreased function | ||
| *10 | Decreased function | ||
| *17 | Increased function | ||
| CYP2D6 | *xN | Increased function |
Amitriptyline Aripiprazole Atomoxetine Clomipramine Codeine Doxepin Eliglustat Flecainide Haloperidol Imipramine Metoprolol Nortriptyline Paroxetine Pimozide Propafenone Tamoxifen Tramadol Venlafaxine Zuclopenthixol |
| *3 | No function | ||
| *4 | No function | ||
| *5 | No function | ||
| *6 | No function | ||
| *8 | No function | ||
| *9 | Decreased function | ||
| *10 | Decreased function | ||
| *14A | Decreased function | ||
| *14B | Decreased function | ||
| *17 | Decreased function | ||
| *41 | Decreased function | ||
| CYP3A5 | *3 | No function | Tacrolimus |
| *6 | No function | ||
| *7 | No function | ||
| DPYD | *2A | No function |
5‐Fluorouracil Capecitabine Tegafur |
| *13 | No function | ||
| 2846A>T | Decreased function | ||
| 1236G>A | Decreased function | ||
| F5 | 1691G>A | Decreased function | Estrogen contraceptive agents |
| HLA‐A | *31:01 | High‐risk allele | Carbamazepine |
| HLA‐B | *15:02 | High‐risk allele |
Carbamazepine Oxcarbazepine Phenytoin Lamotrigine |
| *15:11 | High‐risk allele | Carbamazepine | |
| *57:01 | High‐risk allele |
Abacavir Flucloxacillin |
|
| *58:01 | High‐risk allele | Allopurinol | |
| NUDT15 | *2 | Decreased function |
6‐Mercaptopurine Azathioprine Thioguanine |
| *3 | Decreased function | ||
| *6 | Decreased function | ||
| *9 | Decreased function | ||
| SLCO1B1 | *5/*15/*17 | Decreased function |
Atorvastatin Simvastatin |
| TPMT | *2 | No function |
6‐Mercaptopurine Azathioprine Thioguanine |
| *3A | No function | ||
| *3B | No function | ||
| *3C | No function | ||
| UGT1A1 | *6 | Decreased function | Irinotecan |
| *27 | Decreased function | ||
| *28 | Decreased function | ||
| *37 | Decreased function | ||
| VKORC1 |
−1639G>A; 1173 C>T |
Decreased expression |
Acenocoumarol Phenprocoumon Warfarin |
CYP, cytochrome P450; DPWG, Dutch Pharmacogenetics Working Group; DPYD, dihydropyrimidine dehydrogenase; F5, factor V Leiden; HLA, human leucocyte antigen; NUDT, nudix hydrolase; SLCO, solute carrier organic anion transporter; UGT, UDP‐glucuronosyltransferase; TPMT, thiopurine S‐methyltransferase; VKORC, vitamin K epoxide reductase complex.