Table 2. Allele frequencies of clinically relevant DMET markers according to ethnic groups.
| Gene* | Related drugs | rs number | Allele | Function change | Alternative allele frequency† (%) | ||||
|---|---|---|---|---|---|---|---|---|---|
| Korean (n = 1,012) | Global | EUR | EAS | AFR | |||||
| CYP2C19 | Amitriptyline clopidogrel citalopram voriconazole | rs12248560 | *17 | Increased function | 1.04 | 15.32 | 22.37 | 1.49 | 23.52 |
| rs17878459 | *2B | No function | 0.05 | 0.90 | 3.58 | 0.00 | 0.38 | ||
| rs4986893 | *3 | No function | 9.55 | 1.42 | 0.00 | 5.56 | 0.23 | ||
| rs4244285 | *2 | No function | 29.05 | 22.14 | 14.51 | 31.25 | 17.02 | ||
| CYP2C9 | Celecoxib ibuprofen warfarin phenytoin | rs72558187 | *13 | Decreased function | 0.25 | 0.06 | 0.00 | 0.30 | 0.00 |
| rs1799853 | *2 | Decreased function | 0.05 | 4.79 | 12.43 | 0.10 | 0.83 | ||
| rs28371685 | *11 | Decreased function | 0.00 | 0.72 | 0.20 | 0.00 | 2.42 | ||
| rs28371686 | *5 | Decreased function | 0.00 | 0.46 | 0.00 | 0.00 | 1.66 | ||
| CYP2C8 | Ibuprofen rosiglitazone | rs10509681 | *3 | Decreased function | 0.05 | 4.57 | 11.83 | 0.10 | 0.83 |
| rs11572103 | *2 | Decreased function | 0.00 | 5.47 | 0.40 | 0.00 | 18.91 | ||
| rs11572080 | *3 | Decreased function | 0.05 | 4.57 | 11.83 | 0.10 | 0.83 | ||
| SLCO1B1 | Simvastatin | rs4149015 | *17 | Decreased function | 14.44 | 5.47 | 6.46 | 13.10 | 0.68 |
| rs72559745 | *3 | Possible decreased function | 0.00 | 1.65 | 1.63 | - | - | ||
| rs4149056 | *5 | Decreased function | 14.67 | 8.77 | 16.10 | 12.30 | 1.36 | ||
| rs59502379 | *9 | Possible decreased function | 0.00 | 1.12 | 0.00 | 0.00 | 4.08 | ||
| VKORC1 | Warfarin | rs7294 | c.*134G>A | Increased warfarin dose | 7.76 | 38.54 | 37.39 | 9.60 | 45.87 |
| rs9934438 | c.174-136C>T | Inert, linked with rs9923231 | 92.13 | 35.58 | 38.77 | 88.49 | 5.45 | ||
| rs9923231 | c.-1639G>A | Decreased warfarin dose | 92.05 | 35.56 | 38.77 | 88.49 | 5.45 | ||
| CYP4F2 | Warfarin | rs2108622 | *3 | Decreased function | 31.85 | 23.86 | 29.03 | 21.43 | 8.25 |
| CYP2B6 | Efavirenz | rs34223104 | *22 | Increased function | 0.54 | 1.64 | 0.89 | 0.20 | 3.63 |
| rs3826711 | *26 | Decreased function | 0.69 | 0.10 | 0.00 | 0.50 | 0.00 | ||
| rs2279343 | *4 | Increased function | 22.18 | 22.85 | 22.47 | - | 22.90 | ||
| rs28399499 | *16 | Decreased function | 0.00 | 2.32 | 0.00 | 0.00 | 8.25 | ||
| CYP2D6 | Amitriptyline atomoxetine codeine tamoxifene | rs59421388 | *29 | Decreased function | 0.00 | 2.88 | 0.00 | 0.00 | 10.74 |
| rs28371725 | *41 | Decreased function | 2.67 | 6.35 | 9.34 | 3.77 | 1.82 | ||
| rs35742686 | *3 | No function | 0.00 | 0.56 | 1.89 | 0.00 | 0.23 | ||
| rs3892097 | *4 | No function | 0.69 | 9.31 | 18.59 | 0.20 | 6.05 | ||
| rs5030865 | *14or*8 | Decreased function/No function | 0.69 | 0.20 | 0.00 | 0.99 | 0.00 | ||
| rs61736512 | *29 | Decreased function | 0.00 | 2.94 | 0.00 | 0.00 | 10.97 | ||
| rs1065852 | *10 | Decreased function | 51.09 | 23.80 | 20.18 | 57.14 | 11.27 | ||
| UGT1A1 | Atazanavir irinotecan | rs4148323 | *6 | Decreased function | 17.90 | 3.43 | 0.70 | 13.79 | 0.08 |
| rs35350960 | *27 | Decreased function | 1.43 | 0.28 | 0.00 | 1.39 | 0.00 | ||
| TPMT | Azathioprine mercaptopurine thioguanine | rs1142345 | *3C | No function | 1.68 | 3.91 | 2.88 | 2.18 | 6.66 |
| CYP3A5 | Tacrolimus cyclosporine | rs28365085 | *3F | No function | 0.64 | 0.16 | 0.00 | 0.79 | 0.00 |
| rs41303343 | *7 | No function | 0.00 | 3.15 | 0.00 | 0.00 | 11.80 | ||
| rs10264272 | *6 | No function | 0.05 | 4.45 | 0.30 | 0.00 | 15.43 | ||
| rs776746 | *3 | No function | 78.06 | 88.17 | 93.02 | 67.7 | 30.2 | ||
DMET, Drug Metabolizing Enzyme and Transporter; EUR, European; EAS, East Asian; AFR, African.
*These pharmacogenes are referred to in the ‘Clinical Pharmacogenetics Implementation Consortium Dosing Guideline’; †EUR, EAS, AFR data from 1000 Genomes, Allele Frequency Aggregator, Exome Aggregation Consortium, Genome Aggregation Database, and HapMap.