Table 2 Inter-ethnic variability of thiopurine toxicity-associated pharmacogenetic variants.
East Asian (N = 504) | South Asian (N = 489) | European (N = 503) | American (N = 347) | African (N = 661) | |
|---|---|---|---|---|---|
NUDT15 | |||||
NM | 390 (77.4%) | 421 (86.1%) | 498 (99.0%) | 312 (89.9%) | 658 (99.5%) |
IM | 80 (15.9%) | 62 (12.7%) | 2 (0.4%) | 27 (7.8%) | 1 (0.2%) |
PM | 8 (1.6%) | 3 (0.6%) | 2 (0.6%) | ||
Indeterminate | 26 (5.2%) | 3 (0.6%) | 3 (0.6%) | 6 (1.7%) | 2 (0.3%) |
TPMT | |||||
NM | 481 (95.4%) | 472 (96.5%) | 463 (92.0%) | 301 (86.7%) | 520 (78.7%) |
IM | 22 (4.4%) | 17 (3.5%) | 35 (7.0%) | 40 (11.5%) | 77 (11.6%) |
PM | 2 (0.6%) | 6 (0.9%) | |||
Indeterminate | 1 (0.2%) | 5 (1.0%) | 4 (1.2%) | 58 (8.8%) | |
IL6, CRIM1 | |||||
Both WT | 269 (53.4%) | 440 (90.0%) | 478 (95.0%) | 281 (81.0%) | 658 (99.5%) |
CRIM1 rs3821169 heterozygote only | 177 (35.1%) | 46 (9.4%) | 9 (1.8%) | 13 (3.7%) | 1 (0.2%) |
IL6 rs13306435 heterozygote only | 14 (2.8%) | 3 (0.6%) | 15 (3.0%) | 48 (13.8%) | 2 (0.3%) |
CRIM1 rs3821169 homozygote only | 33 (6.5%) | 0 | 0 | 0 | 0 |
IL6 rs13306435 heterozygote and CRIM1 rs3821169 hetero- or homozygote | 10 (2.0%) | 0 | 0 | 4 (1.2%) | 0 |
IL6 rs13306435 homozygote and CRIM1 rs3821169 heterozygote | 1 (0.2%) | 0 | 1 (0.2%) | 1 (0.2%) | 0 |
