Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0533 Transporter Info | ||||
| Gene Name | ATP7B | ||||
| Protein Name | Copper-transporting ATPase 2 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs9535828 | ||||
| Site of GPD | chr13:51999286 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A / G>C / G>T | ||||
| Minor Allele Frequency | A=0.3652/1829 (Global) | ||||
| Allele A | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Platinum Compounds | N.A. | Drug-induced Liver Injury | Allele A is associated with increased response to Platinum compounds in people with Lung Neoplasms as compared to allele G. | [ 1] | |
| Platinum Compounds | N.A. | Lung Neoplasms | Allele A is associated with increased response to Platinum compounds in people with Lung Neoplasms as compared to allele G. | [ 1] | |
| Platinum compounds | N.A. | Lung Neoplasms | Correlated with the increased drug response in patients (compare with allele G) | [ 1] | |
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Lung Neoplasms | Patients with the AA genotype and lung cancer may have an improved response to platinum compounds as compared to patients with the AG and GG genotypes. Other clinical and genetic factors may affect response to platinum compounds in patients with lung cancer. | [ 1] | |
| Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Lung Neoplasms | Patients with the AG genotype and lung cancer may have a decreased response as compared to patients with the AA genotype. Other clinical and genetic factors may affect response to platinum compounds in patients with lung cancer. | [ 1] | |
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Lung Neoplasms | Patients with the GG genotype and lung cancer may have a decreased response to platinum compounds as compared to patients with the AA genotype. Other clinical and genetic factors may affect response to platinum compounds in patients with lung cancer. | [ 1] | |
| Genetic Polymorphism | rs1801249 | ||||
| Site of GPD | chr13:51941218 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | A>G / A>T | ||||
| Minor Allele Frequency | A=0.4480/886 (Global) | ||||
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
| Carboplatin | N.A. | Gastrointestinal Toxicity | Genotype AA is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes AG + GG. | [ 2] | |
| Taxanes | N.A. | Gastrointestinal Toxicity | Genotype AA is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes AG + GG. | [ 2] | |
| Carboplatin | N.A. | Ovarian Neoplasms | Genotype AA is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes AG + GG. | [ 2] | |
| Taxanes | N.A. | Ovarian Neoplasms | Genotype AA is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes AG + GG. | [ 2] | |
| Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Carboplatin | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the AG genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, such as paclitaxel and docetaxel, as compared to women with the AA genotype. Other clinical and genetic factors may also influence likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Taxanes | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the AG genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, such as paclitaxel and docetaxel, as compared to women with the AA genotype. Other clinical and genetic factors may also influence likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Carboplatin | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the GG genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, such as paclitaxel and docetaxel, as compared to women with the AA genotype. Other clinical and genetic factors may also influence likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Taxanes | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the GG genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, such as paclitaxel and docetaxel, as compared to women with the AA genotype. Other clinical and genetic factors may also influence likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Genetic Polymorphism | rs1061472 | ||||
| Site of GPD | chr13:51950352 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C / T>G | ||||
| Minor Allele Frequency | T=0.4890/967 (Global) | ||||
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
| Carboplatin | N.A. | Gastrointestinal Toxicity | Genotype TT is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes CC + CT. | [ 2] | |
| Taxanes | N.A. | Gastrointestinal Toxicity | Genotype TT is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes CC + CT. | [ 2] | |
| Carboplatin | N.A. | Ovarian Neoplasms | Genotype TT is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes CC + CT. | [ 2] | |
| Taxanes | N.A. | Ovarian Neoplasms | Genotype TT is associated with increased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes in women with Ovarian Neoplasms as compared to genotypes CC + CT. | [ 2] | |
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
| Ethambutol | N.A. | Drug-induced Liver Injury | Genotype CC is associated with increased likelihood of drug-induced liver injury when treated with ethambutol and isoniazid / pyrazinamide / rifampin in people with Tuberculosis as compared to genotypes CT + TT. | [ 3] | |
| Isoniazid / Pyrazinamide / Rifampin | N.A. | Drug-induced Liver Injury | Genotype CC is associated with increased likelihood of drug-induced liver injury when treated with ethambutol and isoniazid / pyrazinamide / rifampin in people with Tuberculosis as compared to genotypes CT + TT. | [ 3] | |
| Carboplatin | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the CC genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, as compared to women with the TT genotype. Other clinical and genetic factors may also influence the likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Taxanes | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the CC genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, as compared to women with the TT genotype. Other clinical and genetic factors may also influence the likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Drug-induced Liver Injury | Allele T is not associated with resistance to Platinum compounds in people with Lung Neoplasms as compared to allele C. | [ 1] | |
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Carboplatin | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the CT genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, as compared to women with the TT genotype. Other clinical and genetic factors may also influence the likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Taxanes | N.A. | Ovarian Neoplasms | Women with ovarian cancer and the CT genotype may have a decreased likelihood of gastrointestinal toxicity when exposed to carboplatin and taxanes, as compared to women with the TT genotype. Other clinical and genetic factors may also influence the likelihood of gastrointestinal toxicity in women with ovarian cancer who are administered carboplatin and taxanes. | [ 2] | |
| Genetic Polymorphism | rs9535826 | ||||
| Site of GPD | chr13:51991990 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C / T>G | ||||
| Minor Allele Frequency | T=0.6230/1232 (Global) | ||||
| Allele G | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Platinum Compounds | N.A. | Drug-induced Liver Injury | Allele G is associated with increased response to Platinum compounds in people with Lung Neoplasms as compared to allele T. | [ 1] | |
| Platinum Compounds | N.A. | Lung Neoplasms | Allele G is associated with increased response to Platinum compounds in people with Lung Neoplasms as compared to allele T. | [ 1] | |
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Lung Neoplasms | Patients with the GG genotype and lung cancer may have an increased response to platinum compounds as compared to patients with the GT and TT genotypes. Other clinical and genetic factors may also influence response to platinum compounds in patients with lung cancer. | [ 1] | |
| Genotype GT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Lung Neoplasms | Patients with the GT genotype and lung cancer may have a decreased response to platinum compounds as compared to patients with the GG genotype. Other clinical and genetic factors may also influence response to platinum compounds in patients with lung cancer. | [ 1] | |
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Lung Neoplasms | Patients with the TT genotype and lung cancer may have a decreased response to platinum compounds as compared to patients with the GG genotype. Other clinical and genetic factors may also influence response to platinum compounds in patients with lung cancer. | [ 1] | |
| Genetic Polymorphism | rs7999812 | ||||
| Site of GPD | chr13:51971359 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | A>C | ||||
| Minor Allele Frequency | A=0.6260/1238 (Global) | ||||
| Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Platinum Compounds | N.A. | Drug-induced Liver Injury | Allele C is not associated with resistance to Platinum compounds in people with Lung Neoplasms as compared to allele A. | [ 1] | |
| References | |||||
| 1 | The ATP7B genetic polymorphisms predict clinical outcome to platinum-based chemotherapy in lung cancer patients. Tumour Biol. 2014 Aug;35(8):8259-65. | ||||
| 2 | Carboplatin/taxane-induced gastrointestinal toxicity: a pharmacogenomics study on the SCOTROC1 trial. Pharmacogenomics J. 2016 Jun;16(3):243-8. | ||||
| 3 | Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity. Exp Mol Med. 2024 Mar;56(3):570-582. | ||||
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