Table 1.
Description and prevalence of actionable DPYD and UGT1A1 pharmacogenetic variants tested in the IMPACT-GI study.
| Gene | Variant Allele | Allele Frequency15,31 | ||||||
|---|---|---|---|---|---|---|---|---|
| * Allele | c. Nomenclature | rsID | AA | CSA | EA | EU | LAT | |
| DPYD | *2A | c.1905+1G>A | rs3918290 | 0.003 | 0.005 | 0.000 | 0.008 | 0.001 |
| *8 | c.703C>T | rs1801266 | NR | 0.0002 | 0.000 | 0.0001 | 0.000 | |
| *10 | c.2983G>T | rs1801268 | NR | NR | NR | NR | NR | |
| *12 | c.1156G>T | rs78060119 | NR | NR | NR | NR | NR | |
| *13 | c.1679T>G | rs55886062 | 0.000 | 0.000 | 0.000 | 0.001 | 0.000 | |
| HapB3 | c.1236G>A | rs56038477 | 0.003 | 0.020 | 0.000 | 0.024 | 0.006 | |
| c. 1129-5923C>G | rs75017182 | |||||||
| c.483+18G>A | rs56276561 | |||||||
| c.557A>G | rs115232898 | 0.012 | NR | 0.000 | 0.0001 | 0.001 | ||
| c.2846A>T | rs67376798 | 0.003 | 0.001 | 0.000 | 0.004 | 0.002 | ||
| UGT1A1 | *6 | c.211G>A | rs4148323 | 0.004 | 0.045 | 0.146 | 0.008 | 0.012 |
| *28 | c.-41_-40dupTA( TA7) | rs8175347 | 0.373 | 0.414 | 0.148 | 0.316 | 0.400 | |
AA, African ancestry; CSA, Central/South Asian ancestry; EA, East Asian ancestry; EU, European ancestry; LAT, Latino ancestry; N/A, Not applicable; NR, not reported.
*Refers to the standardized “star” (*) allele nomenclature.