Table 4.
Examples of pharmacogenetics in clinical scenarios and comparisons of minor allele frequency across different populations.
| Drug name | Gene | Genetic variants | Minor Allele Frequency |
Clinical application or impact | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ref. | Alt. | 1KTWWGS | 1000GCHB | 1000GCHS | 1000G JPT |
gnomADEAS | gnomAD SAS |
1000GCEU | gnomAD non-Finish |
gnomAD AFR |
ChinaMap | ||||
| Warfarin | VKORC1 | rs9923231 | C | T | 0.865 | 0.956* | 0.890 | 0.903 | 0.901* | NA | 0.429* | 0.368* | 0.102* | NA | Weekly warfarin dosage |
| CYP2C9 | rs1057910 | A | C | 0.034 | 0.038 | 0.047 | 0.019 | 0.033 | 0.109* | 0.066 | 0.068* | 0.012* | 0.0459 | ||
| rs1057910 | A | G | NA | NA | NA | NA | NA | NA | NA | <0.000 | 0.00007 | NA | |||
| rs1799853 | C | T | 0.001 | <0.000 | 0.004 | <0.000 | 0.0004 | 0.047* | 0.152* | 0.127* | 0.021* | 0.0012 | |||
| Affects the metabolism of clopidogrel and the risk of coronary stenting thrombosis or cardiovascular events | |||||||||||||||
| Clopidogrel | CYP2C19*2 | rs4244285 | G | A | 0.348 | 0.335 | 0.352 | 0.3220 | 0.308* | 0.325 | 0.131* | 0.147* | 0.178* | 0.3117 | |
| rs3758580 | C | T | 0.305 | 0.335 | 0.352 | 0.3220 | 0.310 | 0.327 | 0.131 | 0.147* | 0.179* | 0.3121 | |||
| rs181297724 | G | C | 0.0048 | <0.000 | 0.004 | 0.009 | 0.004 | 0.00007* | <0.000 | 0.0012* | 0.00004* | 0.0053 | |||
| rs181297724 | G | A | NA | NA | NA | NA | NA | NA | NA | <0.000 | 0.00007 | NA | |||
| rs17878459 | G | C | <0.000 | <0.000 | <0.000 | <0.000 | <0.000 | 0.0078* | 0.0250 | 0.033 | 0.008 | 0.00024 | |||
| rs778258371 | G | A | <0.000 | NA | NA | NA | NA | NA | NA | <0.000 | <0.000 | 0.00005 | |||
| rs144036596 | G | A | NA | <0.000 | <0.000 | <0.000 | 0.0001 | 0.0001 | <0.000 | 0.0003 | 0.0002 | 0.00014 | |||
| rs144036596 | G | C | NA | NA | NA | NA | NA | NA | NA | 0.00005 | <0.000 | NA | |||
| rs144036596 | G | T | NA | NA | NA | NA | NA | NA | NA | 0.00001 | <0.000 | NA | |||
| rs550527959 | A | T | <0.000 | <0.000 | <0.000 | <0.000 | <0.000 | <0.000 | <0.000 | <0.000 | <0.000 | NA | |||
| CYP2C19*3 | rs4986893 | G | A | 0.055 | 0.044 | 0.048 | 0.072 | 0.063 | 0.004* | 0* | 0.00025* | 0.00038* | 0.0485 | ||
| rs763625282 | T | A | <0.000 | NA | NA | NA | NA | NA | NA | <0.000 | <0.000 | 0.0005 | |||
| rs144036596 | G | A | <0.000 | <0.000 | <0.000 | <0.000 | 0.00011 | 0.0001 | <0.000 | 0.00029 | 0.00021 | 0.00014 | |||
| rs144036596 | G | C | NA | NA | NA | NA | NA | NA | NA | 0.00005 | <0.000 | NA | |||
| rs144036596 | G | T | NA | NA | NA | NA | NA | NA | NA | 0.00001 | <0.000 | NA | |||
* Indicates P value < 0.01 compared with 1KTW-WGS; AFR: African/African American; CEU: European; CHB: Chinese-Bejing; CHS: Chinese-South; JPT: Japanese; EAS: East Asian; NA: not available; SAS: South Asian; Ref: reference; Alt: alternate; CHC: chronic hepatitis C; <0.000 means the actual number is not provided in the databases, but it should be less than < 0.000001.