Table 2.
CYP2D6 star allele frequencies
| Allele frequencies (%) | ||||||||
|---|---|---|---|---|---|---|---|---|
| CYP2D6 allele | CPIC function | SSA in this study (n = 947) | Previous SSA studiesa (n = 2,248) | African American/Afro Caribbean (n = 157) | EUR (n = 498) | AMR (n = 345) | SAS (n = 481) | EAS (n = 502) |
| *1 | Normal | 24.7 | 7.8 | 31.5 | 35.8 | 45.1 | 39.5 | 26 |
| *2 | Normal | 13.4 | 19.8 | 9.6 | 15.9 | 18.3 | 20.8 | 7.8 |
| *27 | Normal | 0.3 | 0.5 | 0.3 | 0 | 0.3 | 0 | 0 |
| *34 | Normal | 0.1 | 0 | 0 | 0 | 0 | 0 | |
| *39 | Normal | 0.1 | 0 | 0.3 | 0.1 | 0.1 | 0.4 | 0.3 |
| *45 | Normal | 3.7 | 4.2 | 2.2 | 0 | 0.3 | 0 | 0 |
| *46 | Normal | 0.5 | 0.2 | 1 | 0 | 0.1 | 0 | 0 |
| *17x2 | Normal | 0.2 | 0 | 0 | 0 | 0 | 0 | |
| *29x2 | Normal | 0.3 | 0.3 | 0 | 0 | 0 | 0 | |
| *41x2 | Normal | 0 | 0.2 | 0 | 0 | 0 | 0 | 0 |
| *10 | Decreased | 3.9 | 5.6 | 3.8 | 1.2 | 1.6 | 3.5 | 15.2 |
| *17 | Decreased | 19.5 | 19.3 | 16.9 | 0.2 | 0.9 | 0 | 0 |
| *29 | Decreased | 10 | 12.1 | 5.7 | 0 | 0.3 | 0 | 0 |
| *41 | Decreased | 0.8 | 11.5 | 2.9 | 8.5 | 6.1 | 11.4 | 3.4 |
| *84 | Decreased | 0.1 | 0.3 | 0 | 0 | 0 | 0 | |
| *3 | No function | 0 | 0.2 | 1 | 1.8 | 0.6 | 0.2 | 0 |
| *4 | No function | 1.7 | 3.4 | 4.1 | 11.8 | 9.6 | 8.2 | 0.2 |
| *4x2 | No function | 2.2 | 3.8 | 0.3 | 0.1 | 0 | 0 | |
| *4x3 | No function | 0.1 | 0.1 | 0 | 0 | 0 | 0 | |
| *5 | No function | 8.1 | 5.2 | 7 | 2.4 | 2.2 | 2.5 | 3.5 |
| *12 | No function | 0.2 | 0.3 | 0 | 0 | 0 | 0 | 0 |
| *13 | No function | 0.1 | 0.3 | 0.2 | 0.1 | 0.1 | 0 | |
| *15 | No function | 0.2 | 0.6 | 0 | 0 | 0 | 0 | 0 |
| *36 | No function | 0.4 | 0.3 | 0 | 0 | 0 | 0.2 | |
| *40 | No function | 1.4 | 1.3 | 0.3 | 0 | 0 | 0 | 0 |
| *42 | No function | 0.1 | 0 | 0 | 0 | 0 | 0 | |
| *56 | No function | 0.2 | 0 | 0 | 0 | 0 | 0 | |
| *69 | No function | 0.1 | 0 | 0.1 | 0 | 0.2 | 0.3 | |
| *68 + *4 | No function | 0.1 | 1 | 5.7 | 2.6 | 2.2 | 0 | |
| *1x2 | Increased | 0.4 | 1.1 | 0.3 | 0.5 | 1.2 | 0.6 | 0.3 |
| *1x3 | Increased | 0.2 | 0 | 0 | 0.1 | 0 | 0 | |
| *2x2 | Increased | 1.9 | 1.7 | 1.3 | 1.5 | 0.6 | 0.4 | 0.5 |
| *2x3 | Increased | 0.1 | 0 | 0.1 | 0 | 0 | 0.1 | |
| *2x4 | Increased | 0.2 | 0 | 0 | 0 | 0 | 0 | |
| *45x2 | Increased | 0.1 | 0 | 0 | 0 | 0 | 0 | |
| *45x3 | Increased | 0.1 | 0 | 0 | 0 | 0 | 0 | |
| *32 | Uncertain | 0 | 0.3 | 0 | 0.3 | 0 | 0.2 | 0 |
| *43 | Uncertain | 0.8 | 1.7 | 1 | 0.1 | 0 | 1 | 0 |
| *43x2 | Uncertain | 0.1 | 0 | 0 | 0.1 | 0 | 0 | |
| *52 | Uncertain | 0 | 0.8 | 0 | 0 | 0 | 0 | 0.1 |
| *73 | Unknown | 0.2 | 0.5 | 0 | 0 | 0 | 0 | 0 |
| *74 | Unknown | 0.1 | 0.5 | 0 | 0 | 0 | 0 | 0 |
| *106 | Unknown | 1.5 | 0 | 0 | 0.1 | 0 | 0 | |
| *122 | Unknown | 0.1 | 0.3 | 0 | 0 | 0 | 0 | |
| *125 | Unknown | 0.3 | 0.3 | 0 | 0 | 0 | 0 | |
| *139 | Unknown | 0.1 | 0 | 0 | 0 | 0.1 | 0 | |
| *149 | Unknown | 0.3 | 0 | 0 | 0 | 0 | 0.1 | |
CYP2D6 star allele frequencies in sub‐Saharan African populations compared with previous studies in this region and global frequency distributions. See Supplementary Materials S3 for the full list including CYP2D6 star alleles called in the global biogeographical groups but not in SSA.
AMR, Admixed American; CPIC, Clinical Pharmacogenetics Implementation Consortium; EAS, East Asian; EUR, European; n, individuals; PharmGKB, Pharmacogenomics Knowledge Base; SSA; sub‐Saharan Africa; SAS, South Asian.
a
See PharmGKB and CPIC CYP2D6 reference materials (https://www.pharmgkb.org/page/cyp2d6RefMaterials).