TABLE 3.
Overview of the actionable PGx variants detected in 321 newborns from Qingdao
| Gene–drug pairs | Number of carriers in the Qingdao cohort | MAF$ | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Drug | Gene | Star allele | dbSNP RS ID | Het | Hom | Variant No. | Carrier No. | Qingdao cohort (%) | EAS (%) | SAS (%) | AFR (%) | EUR/Caucasian (%) | AMR (%) |
| Azathioprine, mercaptopurine, tioguanine | NUDT15 | *3 | rs116855232 | 74 | 5 | 79 | 122 | 13.08 | 9.52 | 6.95 | 0.08 | 0.20 | 4.47 |
| *4 | rs147390019 | 1 | 0 | 1 | 0.16 | 0.10 | 0.00 | 0.00 | 0.00 | 0.72 | |||
| *5 | rs186364861 | 4 | 0 | 4 | 0.62 | 1.39 | 0.10 | 0.00 | 0.00 | 0.00 | |||
| *6 | rs554405994 | 36 | 2 | 38 | 6.23 | 4.76 | 0.20 | 0.15 | 0.30 | 3.89 | |||
| Irinotecan | UGT1A1 | *6 | rs4148323 | 106 | 15 | 121 | 133 | 21.18 | 13.79 | 1.74 | 0.08 | 0.70 | 1.15 |
| *27 | rs35350960 | 12 | 0 | 12 | 1.87 | 1.39 | 0.00 | 0.00 | 0.00 | 0.00 | |||
| Clopidogrel | CYP2C19 | *2 | rs4244285 | 141 | 25 | 166 | 209 | 29.75 | 31.25 | 35.79 | 17.02 | 14.51 | 10.52 |
| *3 | rs4986893 | 33 | 1 | 34 | 5.45 | 5.56 | 1.23 | 0.23 | 0.00 | 0.00 | |||
| *4A/B | rs28399504 | 1 | 0 | 1 | 0.16 | 0.10 | 0.00 | 0.00 | 0.10 | 0.29 | |||
| *6 | rs72552267 | 1 | 0 | 1 | 0.16 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |||
| *17 | rs12248560 | 7 | 0 | 7 | 1.09 | 1.49 | 13.60 | 23.52 | 22.37 | 11.96 | |||
| Codeine | CYP2D6 | *4 | rs3892097 | 5 | 0 | 5 | 266 | 0.78 | 0.20 | 10.94 | 6.05 | 18.59 | 12.97 |
| *8 | rs5030865 | 10 | 1 | 11 | 1.87 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |||
| *10 | rs1065852 | 150 | 81 | 231 | 48.60 | 57.14 | 16.46 | 11.27 | 20.18 | 14.84 | |||
| *41 | rs28371725 | 17 | 2 | 19 | 3.27 | 3.77 | 12.17 | 1.82 | 9.34 | 6.20 | |||
*
1 denotes the default reference (wild type or fully functional) allele or haplotype, while other designations (e.g. *2 or *3) define haplotypes carrying one or more variants.
AFR, africans; AMR, Americans; EAS, East Asians; EUR, Europeans; Het, heterozygous; Hom, homozygous; MAF, minor allelic frequency; SAS, South Asians; $, The MAF of EAS, SAS, AFR, EUR, and AMR refers to the 1000 Genome phase 3 dataset.