Detail Information of Genetic Polymorphisms
General Information of Drug Transporter (DT) | |||||
---|---|---|---|---|---|
DT ID | DTD0246 Transporter Info | ||||
Gene Name | SLC28A3 | ||||
Protein Name | Concentrative Na(+)-nucleoside cotransporter 3 | ||||
Gene ID | |||||
UniProt ID | |||||
Genetic Polymorphisms of DT (GPD) | |||||
Genetic Polymorphism | rs4877847 | ||||
Site of GPD | chr9:84331502 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>C | ||||
Minor Allele Frequency | C=0.4860/2434 (Global) | ||||
Allele A | 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. | Neurotoxicity Syndromes | Allele A is associated with decreased 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 A 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 A 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 A is associated with decreased 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 A 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 decreased likelihood of cardiotoxicity in patients (compare with allele C) | [ 2] | |
Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the AA genotype may have decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype AC or CC, although this is contradicted in one study. Other genetic or clinical factors may also influence the toxicity to anthracyclines. | [ 2] | |
Genotype AC | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the AC genotype may have decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype CC, or increased likelihood as compared to patients with the AA genotype, although this is contradicted in one study. Other genetic or clinical factors may also influence the toxicity to anthracyclines. | [ 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 increased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with genotype AA or AC. Other genetic or clinical factors may also influence the toxicity to anthracyclines. | [ 2] | |
Genetic Polymorphism | rs7853758 | ||||
Site of GPD | chr9:84286011 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A | ||||
Minor Allele Frequency | A=0.2027/1015 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 17 Drugs in Total | ||||
Daunorubicin | Drug Info | Neoplasm | Correlated with the decreased likelihood of cardiotoxicity in patients (compare with allele C) | [ 1] | |
Doxorubicin | Drug Info | Neoplasm | Correlated with the decreased likelihood of cardiotoxicity in patients (compare with allele C) | [ 1] | |
Anthracyclines And Related Substances | N.A. | Neurotoxicity Syndromes | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele G. | [ 2] | |
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Sarcoma, Neuroblastoma, Osteosarcoma or Lymphoma as compared to allele G. | [ 5] | |
Daunorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele G. | [ 1] | |
Doxorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele G. | [ 1] | |
Doxorubicin | N.A. | Cardiotoxicity | Allele A is not associated with likelihood of cardiotoxicity when treated with doxorubicin in women with Breast Neoplasms as compared to allele G. | [ 6] | |
Doxorubicin | N.A. | Cardiotoxicity | Allele A is not associated with increased risk of cardiotoxicity when treated with doxorubicin, paclitaxel and trastuzumab in women with Breast Neoplasms as compared to allele G. | [ 7] | |
Paclitaxel | N.A. | Cardiotoxicity | Allele A is not associated with increased risk of cardiotoxicity when treated with doxorubicin, paclitaxel and trastuzumab in women with Breast Neoplasms as compared to allele G. | [ 7] | |
Trastuzumab | N.A. | Cardiotoxicity | Allele A is not associated with increased risk of cardiotoxicity when treated with doxorubicin, paclitaxel and trastuzumab in women with Breast Neoplasms as compared to allele G. | [ 7] | |
Doxorubicin | N.A. | Cardiotoxicity | Allele A is not associated with increased likelihood of cardiotoxicity when treated with doxorubicin in women with Breast Neoplasms as compared to allele G. | [ 8] | |
Daunorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Sarcoma, Neuroblastoma, Osteosarcoma or Lymphoma as compared to allele G. | [ 5] | |
Doxorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Sarcoma, Neuroblastoma, Osteosarcoma or Lymphoma as compared to allele G. | [ 5] | |
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele G. | [ 2] | |
Daunorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele G. | [ 2] | |
Doxorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele G. | [ 2] | |
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele G. | [ 1] | |
Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Genotype AA is associated with increased likelihood of Cardiotoxicity when exposed to anthracyclines and related substances in children with Acute lymphoblastic leukemia as compared to genotypes AG + GG. | [ 7] | |
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 AA genotype and Neoplasms may have decreased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the AG or GG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Daunorubicin | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 AA genotype and Neoplasms may have decreased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the AG or GG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Doxorubicin | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 AA genotype and Neoplasms may have decreased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the AG or GG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
Gemcitabine | N.A. | Neutropenia | Genotype GG is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG. | [ 9] | |
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 GG genotype and Neoplasms may have increased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the AA or AG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Daunorubicin | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 GG genotype and Neoplasms may have increased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the AA or AG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Doxorubicin | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 GG genotype and Neoplasms may have increased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the AA or AG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Genotypes AA + AG | Click to Show/Hide the Full List of Affected Drugs: 13 Drugs in Total | ||||
Cyclophosphamide | N.A. | Cardiotoxicity | Genotypes AA + AG is not associated with decreased likelihood of cardiotoxicity when treated with cyclophosphamide, doxorubicin, prednisolone and vincristine in people with Lymphoma, B-Cell as compared to genotype GG. | [ 10] | |
Doxorubicin | N.A. | Cardiotoxicity | Genotypes AA + AG is not associated with decreased likelihood of cardiotoxicity when treated with cyclophosphamide, doxorubicin, prednisolone and vincristine in people with Lymphoma, B-Cell as compared to genotype GG. | [ 10] | |
Prednisolone | N.A. | Cardiotoxicity | Genotypes AA + AG is not associated with decreased likelihood of cardiotoxicity when treated with cyclophosphamide, doxorubicin, prednisolone and vincristine in people with Lymphoma, B-Cell as compared to genotype GG. | [ 10] | |
Vincristine | N.A. | Cardiotoxicity | Genotypes AA + AG is not associated with decreased likelihood of cardiotoxicity when treated with cyclophosphamide, doxorubicin, prednisolone and vincristine in people with Lymphoma, B-Cell as compared to genotype GG. | [ 10] | |
Daunorubicin | N.A. | Left Ventricular Dysfunction | Genotypes AA + AG is associated with increased likelihood of Ventricular Dysfunction, Left when treated with daunorubicin, doxorubicin or epirubicin in children with Neoplasms as compared to genotype GG. | [ 8] | |
Doxorubicin | N.A. | Left Ventricular Dysfunction | Genotypes AA + AG is associated with increased likelihood of Ventricular Dysfunction, Left when treated with daunorubicin, doxorubicin or epirubicin in children with Neoplasms as compared to genotype GG. | [ 8] | |
Epirubicin | N.A. | Left Ventricular Dysfunction | Genotypes AA + AG is associated with increased likelihood of Ventricular Dysfunction, Left when treated with daunorubicin, doxorubicin or epirubicin in children with Neoplasms as compared to genotype GG. | [ 8] | |
Doxorubicin | N.A. | Cardiotoxicity | Genotypes AA + AG is associated with decreased likelihood of cardiotoxicity when treated with doxorubicin in children with Neoplasms, Wilms Tumor, Sarcoma, Ewing's, Hodgkin Disease, Lymphoma, Non-Hodgkin, Osteosarcoma or Neuroblastoma as compared to genotype GG. | [ 12] | |
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Genotypes AA + AG is associated with increased likelihood of Ventricular Dysfunction, Left when treated with daunorubicin, doxorubicin or epirubicin in children with Neoplasms as compared to genotype GG. | [ 8] | |
Daunorubicin | N.A. | Cardiotoxicity | Genotypes AA + AG is associated with increased likelihood of Ventricular Dysfunction, Left when treated with daunorubicin, doxorubicin or epirubicin in children with Neoplasms as compared to genotype GG. | [ 8] | |
Doxorubicin | N.A. | Cardiotoxicity | Genotypes AA + AG is associated with increased likelihood of Ventricular Dysfunction, Left when treated with daunorubicin, doxorubicin or epirubicin in children with Neoplasms as compared to genotype GG. | [ 8] | |
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Genotypes AA + AG is associated with decreased likelihood of cardiotoxicity when treated with doxorubicin in children with Neoplasms, Wilms Tumor, Sarcoma, Ewing's, Hodgkin Disease, Lymphoma, Non-Hodgkin, Osteosarcoma or Neuroblastoma as compared to genotype GG. | [ 12] | |
Daunorubicin | N.A. | Cardiotoxicity | Genotypes AA + AG is associated with decreased likelihood of cardiotoxicity when treated with doxorubicin in children with Neoplasms, Wilms Tumor, Sarcoma, Ewing's, Hodgkin Disease, Lymphoma, Non-Hodgkin, Osteosarcoma or Neuroblastoma as compared to genotype GG. | [ 12] | |
Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Anthracyclines And Related Substances | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 AG genotype and Neoplasms may have decreased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the GG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Daunorubicin | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 AG genotype and Neoplasms may have decreased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the GG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Doxorubicin | N.A. | Cardiotoxicity | Pediatric patients with the rs7853758 AG genotype and Neoplasms may have decreased likelihood of cardiotoxicity when treated with anthracyclines as compared to pediatric patients with the GG genotype. Other genetic and clinical factors may also influence development of cardiotoxicity. | [ 8] | |
Genetic Polymorphism | rs885004 | ||||
Site of GPD | chr9:84294635 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A | ||||
Minor Allele Frequency | A=0.1320/661 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 8 Drugs in Total | ||||
Daunorubicin | Drug Info | Neoplasm | Correlated with the decreased likelihood of cardiotoxicity in patients (compare with allele C) | [ 1] | |
Doxorubicin | Drug Info | Neoplasm | Correlated with the decreased likelihood of cardiotoxicity in patients (compare with allele C) | [ 1] | |
Anthracyclines And Related Substances | N.A. | Neurotoxicity Syndromes | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele G. | [ 2] | |
Daunorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele G. | [ 1] | |
Doxorubicin | N.A. | Cardiotoxicity | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele G. | [ 1] | |
Anthracyclines And Related Substances | N.A. | Neoplasms | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to allele G. | [ 2] | |
Anthracyclines And Related Substances | N.A. | Neoplasms | Allele A is associated with decreased likelihood of cardiotoxicity when exposed to daunorubicin and doxorubicin in children with Neoplasms as compared to allele G. | [ 1] | |
Anthracyclines | N.A. | Neoplasm | Correlated with the decreased likelihood of cardiotoxicity in patients (compare with allele C) | [ 2] | |
Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the AA genotype may have decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's response to anthracyclines and related substance. | [ 2] | |
Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Anthracyclines And Related Substances | N.A. | Neoplasms | Patients with the AG genotype may have decreased likelihood of cardiotoxicity when exposed to anthracyclines and related substances in children with Neoplasms as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's response to anthracyclines and related substance. | [ 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 the AA genotype. Other genetic and clinical factors may also influence a patient's response to anthracyclines and related substance. | [ 2] | |
Genetic Polymorphism | rs10868138 | ||||
Site of GPD | chr9:84302386 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>C | ||||
Minor Allele Frequency | T=0.8850/1751 (Global) | ||||
Genotypes CC + CT | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Valganciclovir | N.A. | Neutropenia | Genotypes CC + CT is not associated with increased risk of Neutropenia when treated with valganciclovir in people with Kidney Transplantation as compared to genotype TT. | [ 12] | |
Mercaptopurine | N.A. | Leukopenia | Genotypes CC + CT is associated with increased risk of Leukopenia when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT. | [ 13] | |
Methotrexate | N.A. | Leukopenia | Genotypes CC + CT is associated with increased risk of Leukopenia when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT. | [ 13] | |
Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Gemcitabine | N.A. | Neurotoxicity Syndromes | Genotype TT is not associated with increased risk of hematologic toxicity when treated with gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes CC + CT. | [ 14] | |
Genetic Polymorphism | rs4877831 | ||||
Site of GPD | chr9:84284969 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>A / C>G | ||||
Minor Allele Frequency | C=0.5300/1048 (Global) | ||||
Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Gemcitabine | N.A. | Neutropenia | Genotype GG is not associated with metabolism of gemcitabine as compared to genotypes CC + CG. | [ 15] | |
Genetic Polymorphism | rs11140490 | ||||
Site of GPD | chr9:84278398 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G | ||||
Minor Allele Frequency | A=0.7900/1563 (Global) | ||||
Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Doxorubicin | N.A. | Neutropenia | Genotype AA is associated with increased sensitivity to doxorubicin in Peripheral blood mononuclear cells from pediatric patients reprogramed to hiPSCs (cardiomyocytes) as compared to genotype AG. | [ 16] | |
Genetic Polymorphism | rs7867504 | ||||
Site of GPD | chr9:84305321 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>A / T>C / T>G | ||||
Minor Allele Frequency | T=0.4280/847 (Global) | ||||
Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Gemcitabine | N.A. | Neutropenia | Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT. | [ 9] | |
Gemcitabine Triphosphate | N.A. | Left Ventricular Dysfunction | Genotype CC is associated with increased formation of gemcitabine triphosphate. | [ 15] | |
Gemcitabine | N.A. | Neoplasms | Genotype CC is associated with increased formation of gemcitabine triphosphate. | [ 15] | |
Genotypes CC + CT | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
Gemcitabine | N.A. | Neurotoxicity Syndromes | Genotypes CC + CT is not associated with increased response to gemcitabine and paclitaxel in women Breast Neoplasms as compared to genotype TT. | [ 17] | |
Paclitaxel | N.A. | Neurotoxicity Syndromes | Genotypes CC + CT is not associated with increased response to gemcitabine and paclitaxel in women Breast Neoplasms as compared to genotype TT. | [ 17] | |
Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Gemcitabine | N.A. | Neoplasms | Patients with the CT genotype may have decreased formation of gemcitabine triphosphate as compared to patients with the CC genotypes. Other clinical and genetic factors may also affect formation of gemcitabine triphosphate in patients administered gemcitabine. | [ 15] | |
Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Gemcitabine | N.A. | Neoplasms | Patients with the TT genotype may have decreased formation of gemcitabine triphosphate as compared to patients with the CT and CC genotypes. Other clinical and genetic factors may also affect formation of gemcitabine triphosphate in patients administered gemcitabine. | [ 15] | |
Genetic Polymorphism | rs17343066 | ||||
Site of GPD | chr9:84331158 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A | ||||
Minor Allele Frequency | G=0.6560/1298 (Global) | ||||
Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
Antineoplastic Agents | N.A. | Neurotoxicity Syndromes | Genotype AA is associated with decreased likelihood of Neurotoxicity Syndromes when treated with antineoplastic agents in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AG + GG. | [ 18] | |
Ara-ctp | N.A. | Cardiotoxicity | Genotype AA is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotypes AG + GG. | [ 19] | |
Genetic Polymorphism | rs7035753 | ||||
Site of GPD | chr9:84340767 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>G / C>T | ||||
Minor Allele Frequency | C=0.5810/1149 (Global) | ||||
Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Mercaptopurine | N.A. | Cardiotoxicity | Allele T is associated with 6-mercaptopurine and methyl-mercaptopurine nucleotide levels when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C. | [ 20] | |
Genetic Polymorphism | rs17087144 | ||||
Site of GPD | chr9:84349803 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>A / T>C | ||||
Minor Allele Frequency | T=0.7610/1506 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Mercaptopurine | N.A. | Cardiotoxicity | Allele A is associated with 6-mercaptopurine and methyl-mercaptopurine nucleotide levels when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T. | [ 20] | |
Genetic Polymorphism | rs7043257 | ||||
Site of GPD | chr9:84338759 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>C / T>G | ||||
Minor Allele Frequency | T=0.2200/435 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Mercaptopurine | N.A. | Cardiotoxicity | Allele C is associated with 6-mercaptopurine and methyl-mercaptopurine nucleotide levels when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T. | [ 20] | |
Genetic Polymorphism | rs17428030 | ||||
Site of GPD | chr9:84338706 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G / A>T | ||||
Minor Allele Frequency | A=0.9630/1905 (Global) | ||||
Allele G | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
Mercaptopurine | N.A. | Cardiotoxicity | Allele G is associated with TPMT activity when treated with mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A. | [ 20] | |
Thioguanine | N.A. | Cardiotoxicity | Allele G is associated with TPMT activity when treated with mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A. | [ 20] | |
Genetic Polymorphism | rs4588940 | ||||
Site of GPD | chr9:84326705 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>C / A>G | ||||
Minor Allele Frequency | A=0.6410/1268 (Global) | ||||
Allele G | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Mercaptopurine | N.A. | Cardiotoxicity | Allele G is associated with 6-mercaptopurine and methyl-mercaptopurine nucleotide levels when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A. | [ 20] | |
Genetic Polymorphism | rs4305983 | ||||
Site of GPD | chr9:84329536 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G | ||||
Minor Allele Frequency | A=0.1930/381 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Mercaptopurine | N.A. | Cardiotoxicity | Allele A is associated with 6-mercaptopurine and methyl-mercaptopurine nucleotide levels when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G. | [ 20] | |
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 | Development of a Dose-Adjusted Polygenic Risk Model for Anthracycline-Induced Cardiotoxicity. Ther Drug Monit. 2023 Jun 01;45(3):337-344. | ||||
4 | Evidence for association of SNPs in ABCB1 and CBR3, but not RAC2, NCF4, SLC28A3 or TOP2B, with chronic cardiotoxicity in a cohort of breast cancer patients treated with anthracyclines. Pharmacogenomics. 2016 Feb;17(3):231-40. | ||||
5 | Genome-wide association study of cardiotoxicity in the NCCTG N9831 (Alliance) adjuvant trastuzumab trial. Pharmacogenet Genomics. 2017 Oct;27(10):378-385. | ||||
6 | Cardiotoxicity and pharmacogenetics of doxorubicin in black Zimbabwean breast cancer patients. Br J Clin Pharmacol. 2024 Aug;90(8):1782-1789. | ||||
7 | Possible roles of genetic variations in chemotherapy related cardiotoxicity in pediatric acute lymphoblastic leukemia and osteosarcoma. BMC Cancer. 2018 Jul 03;18(1):704. | ||||
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