Table 3. Allelic, genotypicand phenotypicfrequencies 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 | ||||
Sub total | 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 | ||||
Sub total | 5 | 3.0 |
Abbreviation: CI, confidence interval.