Table S1.
Category | Gene | rs number | Nucleotide (AA) change | Call rate (%) | MAF | Major/minor allele | Associated variable | P-value |
---|---|---|---|---|---|---|---|---|
Phase I | ADH6 | rs10002894 | c.-931C>T | 98.3 | 0.155 | T/C | Cmax | 0.028 |
ALDH2 | rs671 | c.1369G>A (p.Glu504Lys) | 100 | 0.076 | G/A | CLadj | 0.010 | |
ALDH3A1 | rs2072330 | c.741T>A (p.Pro247=) | 96.6 | 0.342 | T/A | Cmax | 0.015 | |
CBR1 | rs1005695 | c.397+210G>C | 98.3 | 0.379 | G/C | %ΔTC | 0.011 | |
%ΔLDL-C | 0.005 | |||||||
rs998383 | c.*559C>G | 100 | 0.356 | C/G | %ΔTC | 0.011 | ||
%ΔLDL-C | 0.005 | |||||||
CYP1B1 | rs1056837 | c.1347T>C (p.Asp449=) | 100 | 0.127 | C/T | %ΔLDL-C | 0.048 | |
CYP2B6 | rs2279344 | c.822+183G>A | 100 | 0.395 | A/G | CLadj | 0.046 | |
CYP2E1 | rs3813867 | c.-1295G>C | 100 | 0.234 | G/C | Cmax | 0.024 | |
rs2031920 | c.-1055C>T | 100 | 0.218 | C/T | Cmax | 0.040 | ||
CYP4F2 | rs2074900 | c.1029C>T (p.His343=) | 100 | 0.169 | C/T | Cmax | 0.024 | |
CYP4F8 | rs4239614 | c.*52C>T | 98.3 | 0.224 | T/C | AUC∞ | 0.049 | |
Cmax | 0.032 | |||||||
CYP4F11 | rs3765070 | c.318T>C (p.Ile106=) | 100 | 0.424 | T/C | %ΔLDL-C | 0.019 | |
rs1060463 | c.1336G>A (p.Asp446Asn) | 100 | 0.407 | G/A | %ΔLDL-C | 0.019 | ||
CYP11B1 | rs4534 | c.128G>A (p.Arg43Gln) | 100 | 0.381 | G/A | AUC∞ | 0.027 | |
Cmax | 0.047 | |||||||
CLadj | 0.038 | |||||||
CYP11B2 | rs4536 | c.873G>A (p.Ala291=) | 100 | 0.441 | A/G | AUC∞ | 0.010 | |
CLadj | 0.010 | |||||||
CYP19A1 | rs700519 | c.790C>T (p.Arg264Cys) | 100 | 0.136 | C/T | %ΔLDL-C | 0.031 | |
rs4646 | c.*161T>G | 100 | 0.093 | G/A | AUC∞ | 0.010 | ||
EPHX1 | rs1051740 | c.337T>C (p.Tyr113His) | 100 | 0.373 | T/C | CLadj | 0.012 | |
FMO3 | rs1736557 | c.769G>A (p.Val257Met) | 98.3 | 0.129 | G/A | Cmax | 0.026 | |
rs2266780 | c.923A>G (p.Glu308Gly) | 100 | 0.203 | A/G | CLadj | 0.014 | ||
%ΔTC | 0.031 | |||||||
Phase II | CHST10 | rs4149521 | c.*39T>C | 100 | 0.059 | T/C | AUC∞ | 0.029 |
Cmax | 0.007 | |||||||
%ΔTC | 0.007 | |||||||
CHST13 | rs3856650 | c.97+3926T>A | 98.3 | 0.267 | T/A | AUC∞ | 0.019 | |
Cmax | 0.003 | |||||||
CLadj | 0.043 | |||||||
rs4305381 | c.98-5237A>C | 98.3 | 0.216 | A/C | Cmax | 0.045 | ||
%ΔTC | 0.034 | |||||||
rs1873397 | c.180+2676C>G | 100 | 0.229 | G/C | Cmax | 0.007 | ||
GSTA3 | rs512795 | c.272+161A>G | 100 | 0.339 | A/G | Cmax | 0.045 | |
GSTA4 | rs367836 | c.*137C>A | 98.3 | 0.172 | A/C | %ΔTC | 0.010 | |
NAT2 | rs1799931 | c.857G>A (p.Gly286Glu) | 100 | 0.144 | G/A | %ΔTC | 0.030 | |
%ΔLDL-C | 0.047 | |||||||
SULT1B1 | rs11731028 | c.376-2858G>A | 100 | 0.220 | G/A | %ΔLDL-C | 0.037 | |
SULT1C2 | rs17036104 | c.796T>G (p.Ser266Ala) | 96.6 | 0.105 | T/G | AUC∞ | 0.006 | |
CLadj | 0.007 | |||||||
UGT2B4 | rs1966151 | c.*225T>C | 94.9 | 0.491 | T/C | AUC∞ | 0.027 | |
CLadj | 0.040 | |||||||
UGT2B15 | rs3100 | c.*168C>T | 100 | 0.212 | C/T | Cmax | 0.014 | |
rs4148271 | c.*185A>T | 98.3 | 0.181 | A/T | AUC∞ | 0.045 | ||
Cmax | 0.007 | |||||||
UGT8 | rs4148254 | c.677C>T (p.Pro226Leu) | 100 | 0.085 | C/T | AUC∞ | 0.018 | |
CLadj | 0.031 | |||||||
Transporter | ABCB1 | rs10276036 | c.1000-44G>A | 98.4 | 0.451 | G/A | AUC∞ | 0.040 |
rs2235033 | c.1554+24T>C | 100 | 0.444 | T/C | AUC∞ | 0.028 | ||
ABCB11 | rs2287622 | c.1331T>C (p.Val444Ala) | 100 | 0.271 | C/T | %ΔLDL-C | 0.037 | |
ABCB4 | rs2302387 | c.175C>T (p.Leu59=) | 100 | 0.220 | C/T | Cmax | 0.029 | |
ABCC1 | rs246221 | c.825T>C (p.Val275=) | 100 | 0.441 | T/C | %ΔLDL-C | 0.005 | |
rs4148380 | c.*1293G>A | 100 | 0.093 | G/A | %ΔLDL-C | 0.043 | ||
ABCC2 | rs2273697 | c.1249G>A (p.Val417Ile) | 100 | 0.113 | G/A | %ΔTC | 0.003 | |
%ΔLDL-C | 0.023 | |||||||
ABCG2 | rs2231142 | c.421C>A (p.Gln141Lys) | 100 | 0.250 | C/A | CLadj | 0.025 | |
SLC5A6 | rs1395 | c.1442C>T (p.Ser481Phe) | 100 | 0.127 | T/C | %ΔLDL-C | 0.029 | |
SLC7A7 | rs2281677 | c.-86T>C | 100 | 0.364 | C/T | AUC∞ | 0.029 | |
Cmax | 0.021 | |||||||
SLC7A8 | rs7141505 | c.-1065G>T | 98.3 | 0.155 | T/G | Cmax | 0.034 | |
rs2268877 | c.152-1008T>C | 98.3 | 0.371 | T/C | CLadj | 0.038 | ||
rs910795 | c.508+1988T>C | 98.3 | 0.293 | T/C | %ΔLDL-C | 0.043 | ||
SLC10A2 | rs7987433 | c.-457A>G | 100 | 0.085 | A/G | %ΔLDL-C | 0.045 | |
rs279942 | c.*373C>G | 100 | 0.212 | C/G | %ΔTC | 0.041 | ||
SLC25A27 | rs9381468 | c.299-1425A>G | 100 | 0.483 | G/A | %ΔTC | 0.043 | |
SLCO1A2 | rs7957203 | c.61-5605T>A | 100 | 0.271 | T/A | AUC∞ | 0.039 | |
SLCO1B1 | rs4149015 | c.-910G>A | 100 | 0.177 | G/A | Cmax | 0.021 | |
rs4149056 | c.521T>C (p.Val174Ala) | 100 | 0.177 | T/C | Cmax | 0.023 | ||
SLCO1B3 | rs4149117 | c.334G>T (p.Ala112Ser) | 98.4 | 0.320 | G/T | Cmax | 0.010 | |
rs7311358 | c.699G>A (p.Met233Ile) | 100 | 0.306 | A/G | Cmax | 0.010 | ||
rs2053098 | c.1557A>G (p.Ala519=) | 100 | 0.314 | G/A | Cmax | 0.010 | ||
SLCO3A1 | rs2283458 | c.1513-1102A>G | 100 | 0.398 | G/A | Cmax | 0.025 | |
SLCO4A1 | rs2236553 | c.797-286C>T | 100 | 0.195 | T/C | AUC∞ | 0.010 | |
CLadj | 0.017 | |||||||
SLCO5A1 | rs16936279 | c.*295A>C | 100 | 0.254 | A/C | Cmax | 0.030 | |
CLadj | 0.043 | |||||||
Others | AHR | rs2066853 | c.1661G>A (p.Arg554Lys) | 100 | 0.415 | G/A | %ΔLDL-C | 0.028 |
ATP7B | rs2277448 | c.-75C>A | 100 | 0.390 | A/C | Cmax | 0.031 | |
COMT | rs4633 | c.36C>T (p.His12=) | 100 | 0.254 | C/T | %ΔTC | 0.006 | |
rs4680 | c.322G>A (p.Val108Met) | 100 | 0.263 | G/A | %ΔTC | 0.007 | ||
NR1I2 | rs3814055 | c.-1135C>T | 98.3 | 0.302 | C/T | AUC∞ | 0.023 | |
CLadj | 0.022 | |||||||
PGAP3 | rs2952151 | c.*560T>C | 100 | 0.458 | T/C | AUC∞ | 0.010 | |
CLadj | 0.012 |
Abbreviations: AA, amino acid; AUC∞, area under the plasma concentration curve from hour 0 to infinity; CLadj, clearance adjusted with body weight; Cmax, maximum drug concentration in plasma; %ΔLDL-C, percentage change in low-density lipoprotein cholesterol from baseline to 48 hours after atorvastatin administration; MAF, minor allele frequency; %ΔTC, percentage change in total cholesterol from baseline to 48 hours after atorvastatin administration.