Table 3.
Allelic, genotypic, and phenotypic frequencies of CYP2C9 gene polymorphisms.
| Allele | Genetic mutation | Enzyme activity | Number of alleles | Allelic frequency | 95% CI (±) | 95% CI range |
|---|---|---|---|---|---|---|
| *1 | Wild‐type | Normal | 272 | 0.824 | 0.041 | 0.783–0.865 |
| *2 | Missense | Decreased | 9 | 0.027 | 0.018 | 0.010–0.045 |
| *3 | Missense | Decreased | 4 | 0.012 | 0.012 | 0.000–0.024 |
| *4 | Missense | NA | 0 | 0.000 | 0.000 | |
| *5 | Missense | Decreased | 3 | 0.009 | 0.010 | −0.001–0.019 |
| *6 | Frame shift | None | 3 | 0.009 | 0.010 | −0.001–0.019 |
| *8 | Missense | Decreased | 14 | 0.042 | 0.022 | 0.021–0.064 |
| *9 | Missense | NA | 20 | 0.061 | 0.026 | 0.035–0.086 |
| *10 | Missense | NA | 0 | 0.000 | 0.000 | |
| *11 | Missense | Decreased | 5 | 0.015 | 0.013 | 0.002–0.028 |
| *12 | Missense | Decreased | 0 | 0.000 | 0.000 | |
| *13 | Missense | Decreased | 0 | 0.000 | 0.000 | |
| *15 | Missense | NA | 0 | 0.000 | 0.000 | |
| *25 | Frame shift | None | 0 | 0.000 | 0.000 | |
| *27 | NA | NA | 0 | 0.000 | 0.000 | |
| Predicted metabolizer phenotype | Number of subjects | Observed genotype frequency (%) | Expected genotype frequency (%) | |||
| Extensive metabolizer | ||||||
| *1/*1 | 113 | 68.5 | 67.9 | |||
| Intermediate metabolizer | ||||||
| *1/*2 | 8 | 4.8 | 4.5 | |||
| *1/*3 | 3 | 1.8 | 2.0 | |||
| *1/*5 | 2 | 1.2 | 1.5 | |||
| *1/*6 | 2 | 1.2 | 1.5 | |||
| *1/*8 | 11 | 6.7 | 7.0 | |||
| *1/*9 | 16 | 9.7 | 10.0 | |||
| *1/*11 | 4 | 2.4 | 2.5 | |||
| Subtotal | 46 | 27.8 | ||||
| Poor metabolizer | ||||||
| *2/*3 | 1 | 0.6 | 0.1 | |||
| Unknown metabolizer status | ||||||
| *5/*9 | 1 | 0.6 | 0.1 | |||
| *6/*8 | 1 | 0.6 | 0.1 | |||
| *8/*9 | 2 | 1.2 | 0.5 | |||
| *9/*11 | 1 | 0.6 | 0.2 | |||
| Subtotal | 5 | 3.0 | ||||
CI = confidence interval.