Table 1. Frequencies and functional status of pharmacogenetic alleles in Saudi population.
| Gene | Allele | Core variant | Variant type | Functional Status | Allele Frequency, SA (%) |
|---|---|---|---|---|---|
| CYP2C9 * | |||||
| *1 | None | Normal | 78.9 | ||
| *2 | rs1799853 | Missense (R144C) | Decreased | 13.4 | |
| *3 | rs1057910 | Missense (I359L) | Inactive | 5.3 | |
| *4 | rs56165452 | Missense (I359T) | Decreased | 0 | |
| *5 | rs28371686 | Missense (D360E) | Decreased | 0.2 | |
| *6 | rs9332131 | Frameshift | Inactive | 0.1 | |
| *7 | rs67807361 | Missense (L19I) | Uncertain function | <0.1 | |
| *8 | rs7900194 | Missense (R150H) | Decreased | 0.5 | |
| *9 | rs2256871 | Missense (H251R) | Normal | 0.7 | |
| *11 | rs28371685 | Missense (R335W) | Decreased | 0.6 | |
| *12 | rs9332239 | Missense (P489S) | Decreased | <0.1 | |
| *13 | rs72558187 | Missense (L90P) | Inactive | 0 | |
| *14 | rs72558189 | Missense (R125H) | Decreased | <0.1 | |
| *24 | rs749060448 | Missense (E354K) | Inactive | <0.1 | |
| *32 | rs868182778 | Missense (V490F) | Uncertain function | <0.1 | |
| *33 | rs200183364 | Missense (R132Q) | Inactive | 0.3 | |
| *36 | rs114071557 | Start lost | Uncertain function | <0.1 | |
| *39 | rs762239445 | Missense(R124W) | Inactive | <0.1 | |
| *43 | rs767576260 | Missense (R124W) | Inactive | <0.1 | |
| *44 | rs200965026 | Missense (T130M)) | Decreased | <0.1 | |
| *45 | rs199523631 | Missense (R132W) | Inactive | <0.1 | |
| *60 | rs767284820 | Missense (L467P) | Uncertain function | <0.1 | |
| CYP2C19 * | |||||
| *1 | None | Normal | 63.3 | ||
| *2 | rs4244285 | Splicing defect | Inactive | 9.6 | |
| *3 | rs4986893 | Stop-gain (W212X) | Inactive | 0.1 | |
| *4A | rs28399504 | Start lost | Inactive | <0.1 | |
| *4B | rs28399504, rs12248560 | Start lost, Regulatory | Inactive | 0 | |
| *5 | rs56337013 | Missense (R433W) | Inactive | 0 | |
| *6 | rs72552267 | Missense (R132Q) | Inactive | <0.1 | |
| *7 | rs72558186 | Splicing defect | Inactive | 0 | |
| *8 | rs41291556 | Missense (W120R) | Inactive | 0.1 | |
| *9 | rs17884712 | Missense (R144H) | Decreased | 0.2 | |
| *10 | rs6413438 | Missense (P227L) | Decreased | 0 | |
| *12 | rs55640102 | Stop-lost (X491C) | Uncertain function | <0.1 | |
| *13 | rs17879685 | Missense (R410C) | Normal | 0.4 | |
| *15 | rs17882687 | Missense (I19L) | Normal | 0.4 | |
| *16 | rs192154563 | Missense (R442C) | Decreased | <0.1 | |
| *17 | rs12248560 | Regulatory | Increased | 25.9 | |
| *24 | rs118203757 | Missense (R335Q) | Inactive | <0.1 | |
| *28 | rs113934938 | Missense (V374I) | Normal | <0.1 | |
| *30 | rs145328984 | Missense (R73C) | Uncertain function | 0.1 | |
| *34 | rs367543002, rs367543003 | Missense (P3S, F4L) | Uncertain function | <0.1 | |
| CYP3A5 * | |||||
| *1 | None | Normal | 12.5 | ||
| *2 | rs28365083 | Missense (T398N) | Uncertain function | 0 | |
| *3 | rs776746 | Splicing defect | Inactive | 84.5 | |
| *6 | rs10264272 | Splicing defect | Inactive | 2.4 | |
| *7 | rs41303343 | Frameshift | Inactive | 0.4 | |
| *8 | rs55817950 | Missense (R28C) | Uncertain function | <0.1 | |
| CYP4F2 * | |||||
| *1 | None | Normal | 55.6 | ||
| *3 | rs2108622 | Missense (V433M) | Decreased function | 44.4 | |
| VKORC1 * | |||||
| Wild-type | None | Normal | 15.08 | ||
| 1173C>T (*2) | rs9934438 | Regulatory | Decreased expression | 53.7 | |
| 3730G>A | rs7294 | UTR | Increased | 29.2 | |
| 85G>T | rs104894539 | Missense(V29L) | Increased | 0 | |
| 106G>T | rs61742245 | Missense (D36Y) | Increased | 2.1 | |
| 172A>G | rs104894541 | Missense (R58G) | Increased | 0 | |
| 196G>A | rs72547529 | Missense (V66M) | Increased | <0.1 | |
| 292C>G | rs72547528 | Missense (R98W) | Increased | 0 | |
| 383T>G | rs104894542 | Missense (L128R) | Increased | 0 | |
| DPYD * / ** | |||||
| *1 | None | Normal | 99.82 | ||
| 2846A>T | rs67376798 | Missense (D949V) | Inactive | <0.1 | |
| *2A | rs3918290 | Splicing defect | Inactive | 0.1 | |
| *8 | rs1801266 | Missense(R235W) | Inactive | <0.1 | |
| 557A>G | rs115232898 | Missense (Y186C) | Decreased function | 0.1 | |
| 2279C>T | rs112766203.1 | Missense (T760I) | Decreased function | <0.1 | |
| 1475C>T | rs72549304 | Missense (S492L) | Inactive | <0.1 | |
| 868A>G | rs146356975 | Missense (K290E) | Decreased function | <0.1 | |
| 1236G>A (HapB3) | rs56038477 | Synonymous (E412 =) | Decreased function | 0.5 | |
| TPMT ** | |||||
| *1 | None | Normal | 99.1 | ||
| *2 | rs1800462 | Missense (A80P) | Inactive | <0.1 | |
| *3A | rs1800460, rs1142345 | Missense (A154T, Y240C) | Inactive | 0.3 | |
| *3B | rs1800460 | Missense (A154T) | Inactive | <0.1 | |
| *3C | rs1142345 | Missense (Y240C) | Inactive | 0.4 | |
| *6 | rs75543815 | Missense (Y180F) | Uncertain function | 0 | |
| *8 | rs56161402 | Missense (R215H) | Uncertain function | 0.2 | |
| *12 | rs200220210 | Missense (S125L) | Uncertain function | <0.1 | |
| *24 | rs6921269 | Missense (Q179H) | Uncertain function | 0.1 | |
| *25 | rs377085266 | Missense(C212R) | Uncertain function | <0.1 | |
| *34 | rs111901354 | Missense (R82W) | Uncertain function | <0.1 | |
| NUDT15 * | |||||
| *1 | None | Normal | 98.5 | ||
| *3 | rs116855232 | Missense (R139C) | Inactive | 1.8 | |
| *5 | rs186364861 | Missense (V18I) | Uncertain function | <0.1 |
Functional status of star alleles was defined according to:
* the Pharmacogene Variation Consortium (https://www.pharmvar.org) and the Clinical Pharmacogenetics Implementation Consortium guidelines (https://cpicpgx.org/guidlines/).
**-literature [24].