The 135 Polymorphisms in 62 Candidate Genes/Loci Examined in the Present Study

Supplemental Digital Content

The 135 polymorphisms in 62 candidate genes/loci examined in the present study.


Supplementary Table 1. The 135 polymorphisms in 62 candidate genes/loci examined in the present study

Locus / Candidate Genes / Nearby Genes / Symbol / Polymorphism (Amino acid changes) / dbSNP
Genes potentially involved in statin pharmacokinetics
7q21.1 / ATP-binding cassette, sub-family B,
member 1 / ABCB1 / 2677G>T / rs2032582
7q21.1 / ATP-binding cassette, sub-family B,
member 1 / ABCB1 / 3435C>T / rs1045642
7q21.1 / ATP-binding cassette, sub-family B,
member 1 / ABCB1 / 1236 C>T / rs1128503
10q24 / ATP-binding cassette, sub-family C,
member 2 / ABCC2 / 4544G>A (Cys1515Tyr) / rs8187710 a
10q24 / ATP-binding cassette, sub-family C,
member 2 / ABCC2 / 1446C>G (Thr482Thr)
10q24 / ATP-binding cassette, sub-family C,
member 2 / ABCC2 / 1249G>A (Val417Ile) / rs2273697
10q24 / ATP-binding cassette, sub-family C,
member 2 / ABCC2 / 3563T>A (Val1188Glu) / rs8187694 a
4q22 / ATP-binding cassette, subfamily G,
member 2 / ABCG2 / 421C>A (Gln141Lys) / rs2231142
4q22 / ATP-binding cassette, subfamily G,
member 2 / ABCG2 / 34G>A / rs2231137
10q24 / Cytochrome P450 family 2,
subfamily C, polypeptide 19 / CYP2C19 / *3, 636G>A
10q24 / Cytochrome P450 family 2,
subfamily C, polypeptide 19 / CYP2C19 / *2, 681G>A
10q24 / Cytochrome P450 family 2,
subfamily C, polypeptide 9 / CYP2C9 / *3, 1075A>C / rs1057910
22q13.1 / Cytochrome P450 family 2,
subfamily D, polypeptide 6 / CYP2D6 / 188C>T
22q13.1 / Cytochrome P450 family 2,
subfamily D, polypeptide 6 / CYP2D6 / 1934G>A
22q13.1 / Cytochrome P450 family 2,
subfamily D, polypeptide 6 / CYP2D6 / 1846G>A/T
22q13.1 / Cytochrome P450 family 2,
subfamily D, polypeptide 6 / CYP2D6 / 2938C>T
22q13.1 / Cytochrome P450 family 2,
subfamily D, polypeptide 6 / CYP2D6 / 4268G>C
22q13.1 / Cytochrome P450 family 2,
subfamily D, polypeptide 6 / CYP2D6 / *5, deletion
7q22.1 / Cytochrome P450 family 3,
subfamily A, polypeptide 4 / CYP3A4 / *1G,
20230GA / rs2242480
7q22.1 / Cytochrome P450 family 3,
subfamily A, polypeptide 5 / CYP3A5 / *3 / rs776746
7q22.1 / Cytochrome P450, family 3,
subfamily A, polypeptide 5, pseudogene 1 / CYP3AP1 / *3, -44G>A
1q23-q25 / Flavin containing monooxygenase 3 / FMO3 / Glu158Lys / rs2266782
1q23-q25 / Flavin containing monooxygenase 3 / FMO3 / Val 257Met / rs1736557
1q23-q25 / Flavin containing monooxygenase 3 / FMO3 / Glu 308Gly / rs2266780
8p22 / N-acetyltransferase 2 / NAT2 / *6,590G>A (Arg197Gln) / rs1799930
8p22 / N-acetyltransferase 2 / NAT2 / *7,857G>A (Gly286Glu) / rs1799931
14q24.1 / Solute carrier family 10, member 1 / SLC10A1
(NTCP) / *2,800C>T (Ser267Phe) / rs2296651
6q26 / Solute carrier family 22 (organic
cation transporter), member 1 / SLC22A1 (OCT1) / 480C>G (Phe160Leu) / rs683369
6q26 / Solute carrier family 22 (organic
cation transporter), member 1 / SLC22A1 (OCT1) / 1022C>T (Pro341Leu) / rs2282143
6q26 / Solute carrier family 22 (organic
cation transporter), member 1 / SLC22A1 (OCT1) / 1222A>G (Met480Val) / rs628031
6q26 / Solute carrier family 22 (organic
cation transporter), member 2 / SLC22A2
(OCT2) / 808G>T (Ala270Ser) / rs316019
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / T>G / rs2291073
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / C>A / rs4149036
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / G>C / rs4149080
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / 388A>G (Asn130Asp) / rs2306283
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / 521T>C (Val174Ala) / rs4149056
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / 571T>C / rs4149057
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / 597 C>T / rs2291075
12p12 / Solute carrier organic anion transporter
family, member 1B1 / SLCO1B1 / -11187 G>A / rs4149015
12p12 / Solute carrier organic anion transporter
family, member 1B3 / SLCO1B3 / 344T>G / rs4149117
12p12 / Solute carrier organic anion transporter
family, member 1B3 / SLCO1B3 / 699G>A / rs7311358
11q13 / Solute carrier organic anion transporter
family, member 2B1 / SLCO2B1 / 1457C>T (Ser486Phe) / rs2306168
2q37 / UDP glucuronosyltransferase 1 family, polypeptide A1 / UGT1A1 / *60, -3279T>G / rs4124874
2q37 / UDP glucuronosyltransferase 1 family, polypeptide A1 / UGT1A1 / *6,211G>A (Gly71Arg) / rs4148323
2q37 / UDP glucuronosyltransferase 1 family, polypeptide A1 / UGT1A1 / (TA)6>7, *28
2q37 / UDP glucuronosyltransferase 1 family, polypeptide A6 / UGT1A6 / 541A>G (Thr181Ala) / rs2070959
2q37 / UDP glucuronosyltransferase 1 family, polypeptide A6 / UGT1A6 / 552A>C (Arg184Ser) / rs1105879
4q13 / UDP glucuronosyltransferase 2 family, polypeptide B7 / UGT2B7 / *2,802C>T (His268Tyr) / rs7439366 b
4q13 / UDP glucuronosyltransferase 2 family, polypeptide B7 / UGT2B7 / -327A>G / rs7662029
4q13 / UDP glucuronosyltransferase 2 family, polypeptide B7 / UGT2B7 / 211G>T (Ala71Ser) / rs12233719
4q13 / UDP glucuronosyltransferase 2 family, polypeptide B7 / UGT2B7 / −161T>C / rs7668258
Genes involved in statin pharmacodynamics
9q22-q31 / ATP-binding cassette, subfamily A,
member 1 / ABCA1 / T>C / rs2472384
9q22-q31 / ATP-binding cassette, subfamily A,
member 1 / ABCA1 / 1051G>A (Arg219Lys) / rs2230806
9q22-q31 / ATP-binding cassette, subfamily A,
member 1 / ABCA1 / 5155G>A (Arg1587Lys) / rs2230808
9q22-q31 / ATP-binding cassette, subfamily A,
member 1 / ABCA1 / 69C>T / rs1800977
9q22-q31 / ATP-binding cassette, subfamily A,
member 1 / ABCA1 / 378G>C / rs1800978
2p21 / ATP-binding cassette, subfamily G,
member 5 / ABCG5 / Q604E / rs6720173
2p21 / ATP-binding cassette, subfamily G,
member 8 / ABCG8 / Y54C / rs4148211
2p21 / ATP-binding cassette, subfamily G,
member 8 / ABCG8 / T400K / rs4148217
17q23 / Angiotensin I-converting enzyme / ACE / G>A(Ala157Ala) / rs4331
17q23 / Angiotensin I-converting enzyme / ACE / C>G / rs4341
16p12.3 / Acyl-CoA synthetase medium-chain
family member 1 / ACSM1(MACS1) / AG / rs163253 c
16p12.3 / Acyl-CoA synthetase medium-chain
family member 1 / ACSM1(MACS1) / A>G / rs151328
16p12.3 / Acyl-CoA synthetase medium-chain
family member 2B / ACSM2B (MACS2) / C>T (Leu513Ser) / rs1133607
16p13.11 / Acyl-CoA synthetase medium-chain
family member 3 / ACSM3(SAH) / 1077G>C (Lys359Asn) / rs5716 c
16p13.11 / Acyl-CoA synthetase medium-chain
family member 3 / ACSM3(SAH) / G>T / rs886433
16p13.11 / Acyl-CoA synthetase medium-chain
family member 3 / ACSM3(SAH) / -962 ins/del
3q27 / Adiponectin / ADIPOQ / –11377 C>G / rs266729
3q27 / Adiponectin / ADIPOQ / 45T>G / rs2241766
3q27 / Adiponectin / ADIPOQ / 276G>T / rs1501299
1p31.1-p22.3 / Angiopoietin-like 3 / ANGPTL3 / C>G / rs1748195
1q21-q23 / apolipoprotein A-II / APOA2 / -265T>C / rs5082
11q23 / Apolipoprotein A-V / APOA5 / -1131T>C / rs662799
2p24-p23 / apolipoprotein B / APOB / Xba l, 7673C>T / rs693
2p24-p23 / apolipoprotein B / APOB / Ins/Del
19q13.2 / Apolipoprotein E / APOE / 472C>T (Cys158Arg) / rs7412
19q13.2 / Apolipoprotein E / APOE / 334T>C (Cys112Arg) / rs429358
19q13 / Apolipoprotein E/C-I/C-IV/C-II / APOE/C1
/C4/C2 / A>G / rs4420638
1p13 / Cadherin, EGF LAG seven-pass
G-type receptor 2 (flamingo homolog, Drosophila)/Proline/serine-rich coiled-coil 1/Sortilin 1 / CELSR2/PSRC1
/SORT1 / C>T / rs646776
16q21 / Cholesteryl ester transfer protein, plasma / CETP / C>A / rs3764261
16q21 / Cholesteryl ester transfer protein, plasma / CETP / rs12149545
16q21 / Cholesteryl ester transfer protein, plasma / CETP / -971G>A / rs4783961
16q21 / Cholesteryl ester transfer protein, plasma / CETP / 16G>A (Ile405Val) / rs5882
16q21 / Cholesteryl ester transfer protein, plasma / CETP / TaqIB / rs708272
16q21 / Cholesteryl ester transfer protein, plasma / CETP / -629C>A / rs1800775
1q21-q23 / C-reactive protein, pentraxin-related / CRP / 3872G>A / rs1205
1q21-q24 / C-reactive protein, pentraxin-related / CRP / 5237A>G / rs2808630
11q13.5 / Diacylglycerol O-acyltransferase
homolog 2 / DGAT2 / T>C / rs3060
11q13.5 / Diacylglycerol O-acyltransferase
homolog 2 / DGAT2 / C>T / rs10899116
1q41-q42 / UDP-N-acetyl-alpha-D-galactosamine:
polypeptide N-acetylgalactos- aminyltransferase 2 (GalNAc-T2) / GALNT2 / T>G / rs2144300
1q42 / UDP-N-acetyl-alpha-D-galactosamine:
polypeptide N-acetylgalactos- aminyltransferase 2 (GalNAc-T2) / GALNT2 / G>A / rs4846914
1q42 / UDP-N-acetyl-alpha-D-galactosamine:
polypeptide N-acetylgalactos- aminyltransferase 2 (GalNAc-T2) / GALNT2 / G>A / rs4846914
2p23 / Glucokinase (hexokinase 4) regulator / GCKR / C>T / rs1260326
2p23 / Glucokinase (hexokinase 4) regulator / GCKR / G>A / rs780094
2p23 / Glucokinase (hexokinase 4) regulator / GCKR / C>T / rs1260326
2p23 / Glucokinase (hexokinase 4) regulator / GCKR / G>A / rs780094
16q12.2-q13 / Homocysteine-inducible, endoplasmic
reticulum stress-inducible, ubiquitin-like domain member 1 / HERPUD1 / G>A / rs9989419
5q13.3-q14 / 3-hydroxy-3-methylglutaryl-Coenzyme A
reductase / HMGCR / C>T / rs3846662
5q13.3-q15 / 3-hydroxy-4-methylglutaryl-Coenzyme A
reductase / HMGCR / A>T / rs12654264
12q24.2 / HNF1 homeobox A / HNF1A / Ile27Leu / rs1169288
12q24.2 / HNF1 homeobox A / HNF1A / Ala98Val / rs1800574 a
6p21.2 / Kinesin family member 6 / KIF6 / 2155T>C (Trp719Arg ) / rs20455
16q22.1 / Lecithin-cholesterol acyltransferase / LCAT / A>G / rs255052
19p13.3 / Low density lipoprotein receptor / LDLR / 2052T>C (Val653Val) / rs5925
19p13.3 / Low density lipoprotein receptor / LDLR / 1866C>T (Asn591Asn) / rs688
19p13.3 / Low density lipoprotein receptor / LDLR / T>C / rs1529729
19p13.3 / Low density lipoprotein receptor / LDLR / 44857C>T / rs1433099
19p13.3 / Low density lipoprotein receptor / LDLR / 44964A>G / rs2738466
1p31 / Leptin receptor / LEPR / Gln223Arg / rs1137101
1p31 / Leptin receptor / LEPR / Lys109Arg / rs1137100
15q21-q23 / Lipase, hepatic / LIPC / C>T / rs1532085
15q21-q23 / Lipase, hepatic / LIPC / -514C>T / rs1800588
18q21.1 / Lipase, endothelial/ Acetyl-Coenzyme A
acyltransferase 2 / LIPG
/ACAA2 / T>C / rs4939883
18q21.1 / Lipase, endothelial/ Acetyl-Coenzyme A
acyltransferase 2 / LIPG
/ACAA2 / A>C / rs506696
6q26 / Lipoprotein, Lp(a) / LPA / T>C / rs3798220
6q26 / Lipoprotein, Lp(a) / LPA / G>C / rs7765781
8p22 / Lipoprotein lipase / LPL / A>G / rs331
8p22 / Lipoprotein lipase / LPL / Ser447X / rs328
7q11.23 / MLX interacting protein-like / MLXIPL / 771G>C / rs3812316
19p13 / Neurocan/cartilage intermediate layer
protein 2 / Pre-B-cell leukemia
homeobox 4 / NCAN/CILP2
/PBX4 / G>T / rs16996148
7p13 / NPC1 (Niemann-Pick disease, type C1,
gene)-like 1 / NPC1L1 / 1679C>G (Leu272Leu) / rs2072183
7p13 / NPC1 (Niemann-Pick disease, type C1,
gene)-like 1 / NPC1L1 / 18975G>A / rs4720470
7p13 / NPC1 (Niemann-Pick disease, type C1,
gene)-like 1 / NPC1L1 / A>C / rs2301935
1p32.3 / Proprotein convertase subtilisin/kexin
type 9 / PCSK9 / 158C>T (Ala53Val) / rs11583680
1p32.3 / Proprotein convertase subtilisin/kexin
type 9 / PCSK9 / c.658−7C> T / rs2483205
1p32.3 / Proprotein convertase subtilisin/kexin
type 9 / PCSK9 / c.799 + 3A>G / rs2495477
1p32.3 / Proprotein convertase subtilisin/kexin
type 9 / PCSK9 / 1420G>A (Val474Ile) / rs562556
1p32.3 / Proprotein convertase subtilisin/kexin
type 9 / PCSK9 / 2009G>A (Glu670Gly) / rs505151
7q21.3 / Paraoxonase 1 / PON1 / Gln192Arg / rs662
22q12-q13.1; 22q13.31 / Peroxisome proliferator-activated receptor alpha / PPARA / Leu162Val / rs1800206 a
22q12-q13.1; 22q13.31 / Peroxisome proliferator-activated receptor alpha / PPARA / A>G / rs4253776 a
22q12-q13.1; 22q13.31 / Peroxisome proliferator-activated receptor alpha / PPARA / C>G / rs4253778 a
3p25 / Peroxisome proliferator-activated receptor gamma / PPARG / 167C>G (Pro12Ala) / rs1801282
4p15.1 / Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha / PPARGC1A / 1546G>A / rs8192678
7q11 / Transducin (beta)-like 2 /
MLX interacting protein-like / TBL2
/MLXIPL / C>T / rs17145738
8q24.13 / Tribbles homolog 1 (Drosophila) / TRIB1 / A>G / rs4518686
8q24.13 / Tribbles homolog 1 (Drosophila) / TRIB1 / T>C / rs10808546
11q13 / Uncoupling protein 3 (mitochondrial,
proton carrier) / UCP3 / -55C>T / rs1800849

a MAF <1%;

b Depart from Hardy-Weinberg equilibrium;

c Failed for genotyping

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