Table 1.
Genes and variant alleles interrogated by the pharmacogenetic panel
| Gene | Variant allelesa |
|---|---|
| ABCB1 | c.3435T>C (rs1045642), c.2677T>A/G (rs2032582) |
| ABCG2 | c.421C>A (rs2231142) |
| ADRA2A | c.‐1252G>C (rs1800544) |
| COMT | c.472G>A (rs4680) |
| CYP1A2 | *1A, *1C, *1D, *1F, *1K, *1L, *1V |
| CYP2B6 | *6 (*9), *29, *30 |
| CYP2C cluster | rs12777823 |
| CYP2C19 | *2, *3, *4, *5, *6, *7, *8, *9, *10, *16, *17, *19, *22, *24, *25, *26, *35, *36, *37 |
| CYP2C8 | *2, *3, *4 |
| CYP2C9 | *2, *3 (*18), *4, *5, *6, *8, *11, *12, *13, *15, *25, *27, *31 |
| CYP2D6 | *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *17, *18, *19, *20, *29, *30 (*40), *31, *36, *38, *41, *42, *44, *47, *49, *50, *51, *54, *55, *56, *57, *62, *64, *68, *69, *72, *100, *101, *107, *114 |
| CYP3A4 | *1B, *2, *3, *12, *17, *22 |
| CYP3A5 | *3, *6, *7 |
| CYP4F2 | *3 |
| DPYD | *2, *13, c.2846A>T (rs67376798) |
| DRD2 | c.811‐83G>T (rs1076560), c.‐585A>G (rs1799978) |
| F2 | c.*97G>A (rs1799963) |
| F5 | c.1601G>A (rs6025) |
| G6PD | Mediterranean, A+, A‐202, A‐968, A‐680, Chatam, Canton, Cosenza, Kerala‐Kalyan, Orissa |
| GRIK4 | c.83‐10039T>C (rs1954787) |
| HTR2A | c.614‐2211T>C (rs7997012), c.102C>T (rs6313), c.102C>T (rs6311) |
| HTR2C | c.‐759C>T (rs3813929), c.551‐3008C>G (rs1414334) |
| NUDT15 | *2 (*3), *4, *5 |
| OPRM1 | c.118A>G (rs1799971) |
| SLCO1B1 | c.521T>C (rs4149056; *5, *15, *17) |
| TPMT | *2, *3A, *3B, *3C, *4 |
| UGT1A1 | *6, *27, *80,b rs8175347 (*28, *36, *37) b |
| UGT2B15 | c.253T>G (rs1902023; *2) |
| VKORC1 | c.‐1639G>A (rs9923231), c.106G>T (rs61742245), c.196G>A (rs72547529) |
a
Brackets indicate star (*) allele haplotypes with shared variants that cannot be distinguished by genotyping.
b
The UGT1A1*80 variant (rs887829) is in linkage disequilibrium with the dinucleotide repeat *28 allele (rs8175347) and is used as an internal control for the independent UGT1A1*28 capillary electrophoresis test (see Methods and Results).