Table 1. . Allele frequencies from the 1000 Genomes Project for genetic polymorphisms that affect warfarin dose.
Gene (role) | SNP-id | MAF (%)† | |||
---|---|---|---|---|---|
African | European | Latino | Asian | ||
CYP2C9 (principal enzyme involved in warfarin metabolism) | *2 (rs1799853) | 0.8 | 12.4 | 9.9 | 0.1 |
*3 (rs1057910) | 0.2 | 7.3 | 3.7 | 3.4 | |
*5 (rs28371686) | 1.7 | 0.0 | 0.1 | 0.0 | |
*6 (rs9332131) | 0.8 | 0.0 | 0.0 | 0.0 | |
*8 (rs7900194) | 5.3 | 0.2 | 0.1 | 0.0 | |
*11 (rs28371685) | 2.4 | 0.2 | 0.1 | 0.0 | |
18786A>T (rs7089580) | 20.6 | 22.2 | 11.8 | 1.5 | |
CYP2C | G>A (rs12777823) | 25.1 | 15.1 | 10.7 | 31.4 |
VKORC1 (target protein inhibited by warfarin) | 1639G>A (rs9923231) | 5.4 | 38.8 | 41.1 | 88.5 |
1173C>T (rs9934438) | 5.4 | 38.8 | 41.2 | 88.5 | |
8191A>G (rs61162043) | 45.8 | 60.5 | 57.2 | 11.5 | |
6830T>C (rs17886199) | 5.5 | 0.1 | 0.1 | 0.0 | |
6853C>G (rs8050894) | 25.6 | 40.0 | 44.2 | 88.5 | |
2255C>T (rs2359612) | 17.9 | 38.8 | 42.5 | 88.5 | |
3730G>A (rs7294) | 45.4 | 36.6 | 40.2 | 11.2 | |
CYP4F2 (enzyme involved in vitamin K1 metabolism) | *3 (V433M) (rs2108622) | 8.2 | 29.0 | 23.8 | 21.4 |
GGCX (enzyme activates vitamin-K dependent proteins) | C>G (rs11676382) | 0.2 | 9.4 | 2.6 | 0.0 |
(CAA) 16/17 (rs10654848) | 2.5 | 0.0 | 0.0 | 0.0 | |
CALU (inhibits GGCX) | T>C (rs339097) | 14.4 | 0.0 | 1.2 | 1.4 |
NQO1 (enzyme involved in vitamin K-dependent clotting factor synthesis) | *2 (rs1800566) | 17.5 | 21.1 | 33.3 | 41.9 |
EPHX1 (enzyme hydrolyses epoxide intermediates, i.e., vitamin K epoxide) | 337T>C (rs1051740) | 14.1 | 30.4 | 32.0 | 48.2 |
357G>A (rs1131873) | 11.6 | 16.2 | 14.8 | 28.7 |
†Minor allele frequencies were obtained from the 1000 Genomes Project using super population codes for African, European, Admixed American and east Asian populations.
MAF: Minor Allele Frequency.