Table 1.
Numbers of PGx alleles in each biogeographic group
Gene |
European |
African-American/Afro-Caribbean |
Sub-Saharan African |
Central/South Asian |
East Asian |
|||||
---|---|---|---|---|---|---|---|---|---|---|
# Alleles (CPIC updates) | # Altered function alleles | # Alleles | # Altered function alleles | # Alleles | # Altered function alleles | # Alleles | # Altered function alleles | # Alleles | # Altered function alleles | |
Overall | 327 (166) | 151 (71) | 182 (91) | 80 (34) | 149 (73) | 56 (23) | 162 (72) | 71 (28) | 104 (28) | 53 (17) |
CYP2B6 | 25 (10) | 14 (8) | 20 (10) | 12 (7) | 15 (5) | 8 (3) | 16 (7) | 7 (4) | 9 (3) | 6 (3) |
CYP2C19 | 21 (10) | 12 (4) | 17 (6) | 10 (3) | 16 (8) | 8 (3) | 11 (7) | 6 (3) | 6 (1) | 3 (0) |
CYP2C9 | 41 (30) | 17 (10) | 15 (8) | 10 (4) | 12 (4) | 8 (2) | 19 (10) | 8 (4) | 13 (4) | 10 (4) |
CYP2D6 | 63 (47) | 21 (7) | 39 (20) | 14 (3) | 29 (16) | 10 (3) | 36 (24) | 13 (6) | 20 (3) | 10 (0) |
CYP3A5 | 5 (2) | 3 (1) | 4 (0) | 3 (0) | 4 (0) | 3 (0) | 3 (1) | 2 (1) | 3 (1) | 2 (1) |
CYP4F2 | 3 (0) | 0 (0) | 3 (1) | 0 (0) | 3 (0) | 0 (0) | 3 (0) | 0 (0) | 3 (0) | 0 (0) |
DPYD | 50 (14) | 18 (8) | 27 (10) | 7 (3) | 24 (6) | 3 (1) | 21 (1) | 8 (1) | 13 (2) | 3 (1) |
G6PD | 29 (16) | 25 (15) | 9 (5) | 6 (4) | 6 (6) | 3 (3) | 12 (3) | 10 (2) | 8 (4) | 7 (3) |
NUDT15 | 12 (6) | 3 (1) | 7 (7) | 3 (3) | 5 (5) | 1 (1) | 7 (2) | 3 (1) | 6 (0) | 2 (0) |
RYR1 | 23 (10) | 21 (10) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) |
SLCO1B1 | 22 (13) | 7 (2) | 20 (17) | 6 (5) | 19 (16) | 6 (5) | 16 (11) | 5 (3) | 10 (5) | 4 (2) |
TPMT | 24 (4) | 4 (1) | 10 (4) | 3 (0) | 6 (3) | 1 (0) | 7 (1) | 3 (0) | 4 (1) | 1 (0) |
UGT1A1 | 7 (4) | 6 (4) | 6 (2) | 5 (2) | 5 (3) | 4 (2) | 6 (4) | 5 (3) | 5 (4) | 4 (3) |
The numbers in parentheses “()” indicated the number of the PGx alleles that had zero or missing frequency information on the CPIC frequency tables but were found to be present in at least one UK Biobank participant in this study. Altered function alleles were alleles that had decreased, increased, or no-function. “0” suggested that while we identified PGx alleles for the gene, CPIC frequency tables have already reported frequencies for the PGx alleles in this gene.