Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0036 Transporter Info | ||||
| Gene Name | ABCA1 | ||||
| Protein Name | ATP-binding cassette sub-family A member 1 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs12003906 | ||||
| Site of GPD | chr9:104883196 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>C / G>T | ||||
| Minor Allele Frequency | T=0.0665/333 (Global) | ||||
| Allele C | Click to Show/Hide the Full List of Affected Drugs: 9 Drugs in Total | ||||
| Atorvastatin | Drug Info | Hyperlipidemias | Correlated with the decreased drug response in patients (compare with Allele G) | [ 1] | |
| Pravastatin | Drug Info | Hyperlipidemias | Correlated with the decreased drug response in patients (compare with Allele G) | [ 1] | |
| Simvastatin | Drug Info | Hyperlipidemias | Correlated with the decreased drug response in patients (compare with Allele G) | [ 1] | |
| Atorvastatin | N.A. | Cardiotoxicity | Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G. | [ 1] | |
| Pravastatin | N.A. | Cardiotoxicity | Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G. | [ 1] | |
| Simvastatin | N.A. | Cardiotoxicity | Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G. | [ 1] | |
| Atorvastatin | N.A. | Hyperlipidemias | Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G. | [ 1] | |
| Pravastatin | N.A. | Hyperlipidemias | Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G. | [ 1] | |
| Simvastatin | N.A. | Hyperlipidemias | Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G. | [ 1] | |
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Atorvastatin | N.A. | Hyperlipidemias | Patients with the CC genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a reduced response (less reduction in LDL-cholesterol) as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Pravastatin | N.A. | Hyperlipidemias | Patients with the CC genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a reduced response (less reduction in LDL-cholesterol) as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Simvastatin | N.A. | Hyperlipidemias | Patients with the CC genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a reduced response (less reduction in LDL-cholesterol) as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Genotype CG | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Atorvastatin | N.A. | Hyperlipidemias | Patients with the CG genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a reduced response (less reduction in LDL-cholesterol) as compared to patients with the GG genotype or may have a better response (a higher reduction in LDL-cholesterol) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Pravastatin | N.A. | Hyperlipidemias | Patients with the CG genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a reduced response (less reduction in LDL-cholesterol) as compared to patients with the GG genotype or may have a better response (a higher reduction in LDL-cholesterol) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Simvastatin | N.A. | Hyperlipidemias | Patients with the CG genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a reduced response (less reduction in LDL-cholesterol) as compared to patients with the GG genotype or may have a better response (a higher reduction in LDL-cholesterol) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Atorvastatin | N.A. | Hyperlipidemias | Patients with the GG genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a better response (a higher reduction in LDL-cholesterol) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Pravastatin | N.A. | Hyperlipidemias | Patients with the GG genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a better response (a higher reduction in LDL-cholesterol) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Simvastatin | N.A. | Hyperlipidemias | Patients with the GG genotype and Hyperlipidemia who are treated with atorvastatin, pravastatin or simvastatin may have a better response (a higher reduction in LDL-cholesterol) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to statin treatment. | [ 1] | |
| Genetic Polymorphism | rs2230806 | ||||
| Site of GPD | chr9:104858586 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>T | ||||
| Minor Allele Frequency | T=0.4397/2202 (Global) | ||||
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 9 Drugs in Total | ||||
| Pravastatin | Drug Info | Coronary Disease | Correlated with the increased HDL-cholesterol in patients (compare with genotype CC) | [ 2] | |
| Fenofibrate | Drug Info | Hypertriglyceridemia | Correlated with the increased drug response in patients (compare with genotype CC) | [ 3] | |
| Fenofibrate | N.A. | Cardiotoxicity | Genotype TT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. | [ 3] | |
| Pravastatin | N.A. | Cardiotoxicity | Genotype TT is associated with increased HDL-cholesterol when treated with pravastatin in people with Coronary Disease as compared to genotype CC. | [ 2] | |
| Atorvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 TT genotype may have a decreased response to atorvastatin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to atorvastatin. | [ 4] | |
| Rosuvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 TT genotype may have a decreased response to rosuvastatin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to rosuvastatin. | [ 4] | |
| Simvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 TT genotype may have a decreased response to simvastatin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to simvastatin. | [ 4] | |
| Pravastatin | N.A. | Coronary Disease | Genotype TT is associated with increased HDL-cholesterol when treated with pravastatin in people with Coronary Disease as compared to genotype CC. | [ 2] | |
| Fenofibrate | N.A. | Hypertriglyceridemia | Genotype TT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. | [ 3] | |
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 7 Drugs in Total | ||||
| Fenofibrate | Drug Info | Hypertriglyceridemia | Correlated with the increased drug response in patients (compare with genotype CC) | [ 3] | |
| Fenofibrate | N.A. | Cardiotoxicity | Genotype CT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. | [ 3] | |
| Atorvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 CT genotype may have a decreased response to atorvastatin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to atorvastatin. | [ 4] | |
| Rosuvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 CT genotype may have a decreased response to rosuvastatin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to rosuvastatin. | [ 4] | |
| Simvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 CT genotype may have a decreased response to simvastatin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to simvastatin. | [ 4] | |
| Pravastatin | N.A. | Coronary Disease | Patients with the CT genotype and Coronary Disease who are treated with pravastatin may have a better response (increased HDL-cholesterol) as compared to patients with the CC genotype or may have a reduced response (lower increases in HDL-cholesterol) as compared to patients with the TT genotype. Other genetic and clinical factors may also influence a patient's response to pravastatin treatment. | [ 2] | |
| Fenofibrate | N.A. | Hypertriglyceridemia | Genotype CT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. | [ 3] | |
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Atorvastatin | N.A. | Major Depressive Disorder | Allele T is associated with decreased response to atorvastatin, rosuvastatin or simvastatin as compared to allele C. | [ 4] | |
| Rosuvastatin | N.A. | Major Depressive Disorder | Allele T is associated with decreased response to atorvastatin, rosuvastatin or simvastatin as compared to allele C. | [ 4] | |
| Simvastatin | N.A. | Major Depressive Disorder | Allele T is associated with decreased response to atorvastatin, rosuvastatin or simvastatin as compared to allele C. | [ 4] | |
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 5 Drugs in Total | ||||
| Atorvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 CC genotype may have an increased response to atorvastatin as compared to patients with the CT or TT genotypes. Other genetic and clinical factors may also influence response to atorvastatin. | [ 4] | |
| Rosuvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 CC genotype may have an increased response to rosuvastatin as compared to patients with the CT or TT genotypes. Other genetic and clinical factors may also influence response to rosuvastatin. | [ 4] | |
| Simvastatin | N.A. | Hypertriglyceridemia | Patients with the rs2230806 CC genotype may have an increased response to simvastatin as compared to patients with the CT or TT genotypes. Other genetic and clinical factors may also influence response to simvastatin. | [ 4] | |
| Pravastatin | N.A. | Coronary Disease | Patients with the CC genotype and Coronary Disease who are treated with pravastatin may have a reduced response (lower increases in HDL-cholesterol) as compared to patients with the TT genotype. Other genetic and clinical factors may also influence a patient's response to pravastatin treatment. | [ 2] | |
| Fenofibrate | N.A. | Hypertriglyceridemia | Patients with the CC genotype and hypertriglyceridemia may have a decreased response when treated with fenofibrate as compared to patients with the CT genotype. Other genetic and clinical factors may also influence response to fenofibrate. | [ 3] | |
| Genetic Polymorphism | rs2230808 | ||||
| Site of GPD | chr9:104800523 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C | ||||
| Minor Allele Frequency | T=0.4617/2312 (Global) | ||||
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Fenofibrate | Drug Info | Hypertriglyceridemia | Correlated with the increased drug response in patients (compare with Genotype TT) | [ 3] | |
| Fenofibrate | N.A. | Cardiotoxicity | Genotype CC is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. | [ 3] | |
| Fenofibrate | N.A. | Hypertriglyceridemia | Genotype CC is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. | [ 3] | |
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Fenofibrate | N.A. | Hypertriglyceridemia | Patients with the CT genotype and hypertriglyceridemia may have an increased response when treated with fenofibrate as compared to patients with the TT genotype, or a decreased response when treated with fenofibrate as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to fenofibrate. | [ 3] | |
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Fenofibrate | N.A. | Hypertriglyceridemia | Patients with the TT genotype and hypertriglyceridemia may have a decreased response when treated with fenofibrate as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to fenofibrate. | [ 3] | |
| Genetic Polymorphism | rs3887137 | ||||
| Site of GPD | chr9:104936331 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>A / C>G / C>T | ||||
| Minor Allele Frequency | C=0.8810/1743 (Global) | ||||
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Daunorubicin | N.A. | Cardiotoxicity | Allele T is associated with increased likelihood of cardiotoxicity when treated with daunorubicin or doxorubicin in children with Neoplasms as compared to allele C. | [ 5] | |
| Doxorubicin | N.A. | Cardiotoxicity | Allele T is associated with increased likelihood of cardiotoxicity when treated with daunorubicin or doxorubicin in children with Neoplasms as compared to allele C. | [ 5] | |
| Genetic Polymorphism | rs2487032 | ||||
| Site of GPD | chr9:104941653 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A / G>C | ||||
| Minor Allele Frequency | G=0.3952/1979 (Global) | ||||
| Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Clopidogrel | N.A. | Cardiotoxicity | Allele A is associated with increased metabolism of clopidogrel as compared to genotype GG. | [ 6] | |
| Genetic Polymorphism | rs769705621 | ||||
| Site of GPD | chr9:104794511 (GRCh38.p12) | ||||
| GPD Type | Indel | ||||
| Allele(s) in dbSNP | A / AA / AAA / AAAA | ||||
| Genotype AAAA | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Atorvastatin | N.A. | Cardiotoxicity | Allele AAAA is associated with decreased response to atorvastatin, rosuvastatin or simvastatin in people with familial hypercholesterolemia as compared to genotypes A/AA + A/del. | [ 7] | |
| Rosuvastatin | N.A. | Cardiotoxicity | Allele AAAA is associated with decreased response to atorvastatin, rosuvastatin or simvastatin in people with familial hypercholesterolemia as compared to genotypes A/AA + A/del. | [ 7] | |
| Simvastatin | N.A. | Cardiotoxicity | Allele AAAA is associated with decreased response to atorvastatin, rosuvastatin or simvastatin in people with familial hypercholesterolemia as compared to genotypes A/AA + A/del. | [ 7] | |
| References | |||||
| 1 | Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response. Circ Cardiovasc Genet. 2008 Dec;1(2):100-6. | ||||
| 2 | Effect of R219K polymorphism of the ABCA1 gene on the lipid-lowering effect of pravastatin in Chinese patients with coronary heart disease. Clin Exp Pharmacol Physiol. 2009 May;36(5-6):567-70. | ||||
| 3 | Effect of fenofibrate therapy and ABCA1 polymorphisms on high-density lipoprotein subclasses in the Genetics of Lipid Lowering Drugs and Diet Network. Mol Genet Metab. 2010 Jun;100(2):118-22. | ||||
| 4 | Genetic contribution to lipid target achievement with statin therapy: a prospective study. Pharmacogenomics J. 2020 Jun;20(3):494-504. | ||||
| 5 | Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. Pharmacogenomics. 2015;16(10):1065-76. | ||||
| 6 | Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel. Clin Pharmacol Ther. 2017 Jun;101(6):791-802. | ||||
| 7 | Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability. Pharmacogenet Genomics. 2024 Jun 01;34(4):91-104. | ||||
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