Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0013 Transporter Info | ||||
| Gene Name | ABCB4 | ||||
| Protein Name | Multidrug resistance protein 3 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs1149222 | ||||
| Site of GPD | chr7:87444459 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>T | ||||
| Minor Allele Frequency | G=0.3842/1924 (Global) | ||||
| Allele G | Click to Show/Hide the Full List of Affected Drugs: 8 Drugs in Total | ||||
| Daunorubicin | Drug Info | Neoplasm | Irrelevant to the likelihood of cardiotoxicity in patients (compare with Allele T) | [ 1] | |
| Doxorubicin | Drug Info | Neoplasm | Irrelevant to the likelihood of cardiotoxicity in patients (compare with Allele T) | [ 1] | |
| Anthracyclines And Related Substances | N.A. | Diabetes Mellitus, Type 2 | Allele G is associated with increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele T. | [ 2] | |
| Daunorubicin | N.A. | Cardiotoxicity | Allele G is not associated with likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele T. | [ 1] | |
| Doxorubicin | N.A. | Cardiotoxicity | Allele G is not associated with likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele T. | [ 1] | |
| Anthracyclines And Related Substances | N.A. | Neoplasms | Allele G is associated with increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele T. | [ 2] | |
| Anthracyclines And Related Substances | N.A. | Neoplasms | Allele G is not associated with likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele T. | [ 1] | |
| Anthracyclines | N.A. | Neoplasm | Correlated with the increased likelihood of cardiotoxicity in patients (compare with Allele T) | [ 2] | |
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the GG genotype may have increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype GT or TT, although this has been contradicted in one study. Other genetic and clinical factors may also influence the risk of toxicity to anthracyclines and related substances. | [ 2] | |
| Genotype GT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the GT genotype may have increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype TT and decreased likelihood as compared to patients with the GG genotype, although this has been contradicted in one study. Other genetic and clinical factors may also influence the risk of toxicity to anthracyclines and related substances. | [ 2] | |
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the TT genotype may have decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype GG or GT genotype, although this has been contradicted in one study. Other genetic and clinical factors may also influence the risk of toxicity to anthracyclines and related substances. | [ 2] | |
| Genetic Polymorphism | rs4148808 | ||||
| Site of GPD | chr7:87476479 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C | ||||
| Minor Allele Frequency | C=0.2206/1105 (Global) | ||||
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 8 Drugs in Total | ||||
| Daunorubicin | Drug Info | Neoplasm | Irrelevant to the likelihood of cardiotoxicity in patients (compare with allele C) | [ 1] | |
| Doxorubicin | Drug Info | Neoplasm | Irrelevant to the likelihood of cardiotoxicity in patients (compare with allele C) | [ 1] | |
| Anthracyclines And Related Substances | N.A. | Diabetes Mellitus, Type 2 | Allele T is associated with increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele C. | [ 2] | |
| Daunorubicin | N.A. | Cardiotoxicity | Allele T is not associated with likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele C. | [ 1] | |
| Doxorubicin | N.A. | Cardiotoxicity | Allele T is not associated with likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele C. | [ 1] | |
| Anthracyclines And Related Substances | N.A. | Neoplasms | Allele T is associated with increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele C. | [ 2] | |
| Anthracyclines And Related Substances | N.A. | Neoplasms | Allele T is not associated with likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele C. | [ 1] | |
| Anthracyclines | N.A. | Neoplasm | Correlated with the increased likelihood of cardiotoxicity in patients (compare with allele C) | [ 2] | |
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the CC genotype may have decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype CT or TT, although this is contradicted in one study. Other genetic and clinical factors may also influence the risk of toxicity to anthracyclines and related substances. | [ 2] | |
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the CT genotype may have increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype CC and decreased likelihood as compared to patients with the TT genotype, although this is contradicted in one study. Other genetic and clinical factors may also influence the risk of toxicity to anthracyclines and related substances. | [ 2] | |
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the TT genotype may have increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype CC or CT, although this is contradicted in one study. Other genetic and clinical factors may also influence the risk of toxicity to anthracyclines and related substances. | [ 2] | |
| Genetic Polymorphism | rs1202283 | ||||
| Site of GPD | chr7:87452976 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A | ||||
| Minor Allele Frequency | G=0.6590/1304 (Global) | ||||
| Genotypes AA + AG | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Imatinib | N.A. | Progression-free Survival | Genotypes AA + AG is associated with increased progression-free survival when treated with imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype GG. | [ 3] | |
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Genotypes AA + AG is associated with increased progression-free survival when treated with imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype GG. | [ 3] | |
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the AA genotype and gastrointestinal stromal tumors may have increased progression-free survival when treated with imatinib as compared to patients with the GG genotype. Other genetic and clinical factors may also influence progression-free survival in patients receiving imatinib. | [ 3] | |
| Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the AG genotype and gastrointestinal stromal tumors may have increased progression-free survival when treated with imatinib as compared to patients with the GG genotype. Other genetic and clinical factors may also influence progression-free survival in patients receiving imatinib. | [ 3] | |
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the GG genotype and gastrointestinal stromal tumors may have decreased progression-free survival when treated with imatinib as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence progression-free survival in patients receiving imatinib. | [ 3] | |
| References | |||||
| 1 | Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children. Pediatr Blood Cancer. 2013 Aug;60(8):1375-81. | ||||
| 2 | Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children. J Clin Oncol. 2012 May 1;30(13):1422-8. | ||||
| 3 | An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor. Pharmacogenomics J. 2019 Aug;19(4):390-400. | ||||
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