Table 3. . CYP2C19*1, *2, *3 and *17 diplotype frequencies among different Asian, Native Hawaiian and Pacific Islander subgroups, compared with European.
| Ethnic group | EUR (reference) (n = 1689246)† | Filipino (n = 186)‡ | Japanese (n = 184)‡ | Korean (n = 75)‡ | Native Hawaiian (n = 146)‡ | Marshallese (n = 118)‡ | Samoan (n = 178)‡ | Phenotype predicted | |
|---|---|---|---|---|---|---|---|---|---|
| CYP2C19 diplotype & predicted phenotype frequency % (n), 95% CI | *1/*1 | 40.6 (684846) | 28.5 (53), (21.5, 36.3) | 32.1 (59), (25, 39.9) | 36 (27), (25.3, 48.4) | 44.5 (65), (36.3, 53.1) | 33.9 (40), (25.4, 43.8) | 31.5 (56), (24.1, 39.3) | NM |
| Phenotype§ frequency | 40.6% | 28.5% | 32.1% | 36% | 44.5%# | 33.9% | 31.5% | ||
| *17 / *17 | 4.7 (80580) | 0 (0), (0, 7.8) | 0 (0), (0, 7.8) | 0 (0), (0, 12.4) | 0.7 (1), (0, 9.2) | 0.9 (1), (0, 10.7) | 0 (0), (0, 7.9) | UM | |
| Phenotype§ frequency | 4.7% | 0% | 0% | 0% | 0.7% | 0.9% | 0% | ||
| *1/ *17 | 27.6 (465574) | 1.1 (2), (0, 8.9) | 1.6 (3), (0, 9.5) | 0 (0), (0, 12.4) | 8.2 (12), (0, 16.8) | 0 (0), (0, 9.9) | 1.7 (3), (0, 9.6) | RM | |
| Phenotype§ frequency | 27.6% | 1.1% | 1.6% | 0% | 8.2% | 0% | 1.7% | ||
| *1/ *2 | 18.5 (313706) | 39.3 (73), (32.3, 47.1) | 32.6 (60), (25.5, 40.4) | 32 (24), (21.3, 44.4) | 33.6 (49), (25.3, 42.1) | 32.2 (38), (23.7, 42.1) | 38.2 (68), (30.9, 46.1) | IM | |
| *1/ *3 | 0.02 (507) | 12.4 (23), (5.4, 20.2) | 10.9 (20), (3.8, 18.7) | 8 (6), (0, 20.4) | 3.4 (5), (0, 11.9) | 10.2 (12), (1.8, 20.1) | 8.4 (15), (1.1, 16.3) | ||
| *2/*17 | 6.3 (107439) | 0 (0), (0, 7.8) | 0.5 (1), (0, 8.4) | 1.3 (1), (0, 13.7) | 0.7 (1), (0, 9.2) | 1.7 (2), (0, 11.6) | 0.6 (1), (0, 8.4) | ||
| *3/*17 | 0.0096 (169) | 0 (0), (0, 7.8) | 0 (0), (0, 7.8) | 1.3 (1), (0, 13.7) | 1.4 (2), (0, 9.9) | 0 (0), (0, 9.9) | 0 (0), (0, 7.9) | ||
| Phenotype§ frequency | 24.8% | 51.6% | 44% | 42.6% | 39.1% | 44.1% | 47.2% | ||
| *2/*2 | 2.1 (36322) | 13.4 (25), (6.5, 21.3) | 15.2 (28), (8.2, 23) | 16 (12), (5.3, 28.4) | 7.5 (11), (0, 16.1) | 11 (13), (2.5, 20.9) | 12.4 (22), (5.1, 20.2) | PM | |
| *3/*3 | 0.0003 (5) | 0 (0), (0, 7.9) | 0.5 (1), (0, 8.3) | 1.3 (1), (0, 13.7) | 0 (0), (0, 8.6) | 0 (0), (0, 9.9) | 1.1 (2), (0, 9) | ||
| *2/*3 | 0.005 (98) | 5.4 (10), (0, 13.2) | 6.5 (12), (0, 14.4) | 4 (3), (0, 16.4) | 0 (0), (0, 8.6) | 10.2 (12), (1.8, 20.1) | 6.2 (11), (0, 14.1) | ||
| Phenotype§ frequency | 2.2% | 18.8% | 22.2% | 21.3% | 7.5% | 21.2% | 19.7% | ||
| χ2 or Fisher's Exact test, p-value¶ | Reference | 3.1e-13 | 8.1e-12 | 1.9e-13 | 0.00021 | 4.7e-13 | 1.03e-11 | – | |
Bolded letter indicates the risk allele.
Total sample presented in this table does not include participants carrying the following diplotypes CYP2C19*N/*17 (n=38), *N/*2 (n=19) and *N/*N (n=5); N indicates Novel haplotype where both *2 and *17 defining SNPs were present on the same chromosome. Data obtained from Ionova et al. taken from [1].
Participants with missing data at one or more of the three haplotypes (CYP2C19*2, *3 and *17) were excluded from our diplotyping; however, their data were used to calculate allele frequencies.
CYP2C19 CPIC Diplotype to Phenotype Translation Table [18].
p-value for the difference in phenotype frequencies (UM (CYP2C19*17/*17), RM (CYP2C19*1/*17), NM (CYP2C19*1/*1), IM (CYP2C19*1/*2, *1/*3, *2/*17, *3/*17) and PM (CYP2C19*2/*2, *3/*3, *2/*3)) between each ethnicity and European.
Not significant from EUR (p = 0.34).
EUR: European; IM: Intermediate metabolizer; NM: Normal metabolizer; PM: Poor metabolizer; RM: Rapid metabolizer; UM: Ultrarapid metabolizer.