Detail Information of Genetic Polymorphisms
General Information of Drug Transporter (DT) | |||||
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DT ID | DTD0023 Transporter Info | ||||
Gene Name | SLC22A5 | ||||
Protein Name | Organic cation/carnitine transporter 2 | ||||
Gene ID | |||||
UniProt ID | |||||
Genetic Polymorphisms of DT (GPD) | |||||
Genetic Polymorphism | rs2631367 | ||||
Site of GPD | chr5:132369766 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>G | ||||
Minor Allele Frequency | C=0.2670/1337 (Global) | ||||
Genotypes CG + GG | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Imatinib | Drug Info | Gastrointestinal Stromal Tumors | Correlated with the increased drug response in patients (compare with genotype CC) | [ 1] | |
Imatinib | N.A. | Overall Survival | Genotypes CG + GG are associated with increased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype CC. | [ 1] | |
Imatinib | N.A. | Gastrointestinal Stromal Tumors | Genotypes CG + GG are associated with increased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype CC. | [ 1] | |
Allele C | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
Sunitinib | N.A. | Overall Survival | Allele C is associated with decreased overall survival when treated with sunitinib in people with Gastrointestinal Stromal Tumors as compared to allele G. | [ 2] | |
Imatinib | N.A. | Overall Survival | Allele C is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G. | [ 3] | |
Imatinib | N.A. | Drug Toxicity | Allele C is not associated with likelihood of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G. | [ 3] | |
Imatinib | N.A. | Discontinuation | Allele C is not associated with likelihood of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G. | [ 3] | |
Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the CC genotype and gastrointestinal stromal tumors may have a shorter time to progression when treated with imatinib as compared to patients with the CG or GG genotype. Other genetic and clinical factors may also influence response to imatinib treatment. | [ 1] | |
Genotype CG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the CG genotype and gastrointestinal stromal tumors may have a longer time to progression when treated with imatinib as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to imatinib treatment. | [ 1] | |
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 a longer time to progression when treated with imatinib as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to imatinib treatment. | [ 1] | |
Genetic Polymorphism | rs2631372 | ||||
Site of GPD | chr5:132367886 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>C | ||||
Minor Allele Frequency | C=0.3347/1676 (Global) | ||||
Genotypes CG + GG | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Imatinib | Drug Info | Gastrointestinal Stromal Tumors | Correlated with the increased drug response in patients (compare with genotype CC) | [ 1] | |
Imatinib | N.A. | Overall Survival | Genotypes CG + GG are associated with increased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype CC. | [ 1] | |
Imatinib | N.A. | Gastrointestinal Stromal Tumors | Genotypes CG + GG are associated with increased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype CC. | [ 1] | |
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Sunitinib | N.A. | Overall Survival | Allele C is associated with decreased overall survival when treated with sunitinib in people with Gastrointestinal Stromal Tumors as compared to allele G. | [ 2] | |
Allele G | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Imatinib | N.A. | Overall Survival | Allele G is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele C. | [ 3] | |
Imatinib | N.A. | Drug Toxicity | Allele G is not associated with risk of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele C. | [ 3] | |
Imatinib | N.A. | Discontinuation | Allele G is not associated with risk of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele C. | [ 3] | |
Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the CC genotype and gastrointestinal stromal tumours may have a shorter time to progression when treated with imatinib, as compared to patients with the CG or GG genotype. Other genetic and clinical factors may also influence time to progression. | [ 1] | |
Genotype CG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the CG genotype and gastrointestinal stromal tumours may have a longer time to progression when treated with imatinib, as compared to patients with the CC genotype. Other genetic and clinical factors may also influence time to progression. | [ 1] | |
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 tumours may have a longer time to progression when treated with imatinib, as compared to patients with the CC genotype. Other genetic and clinical factors may also influence time to progression. | [ 1] | |
Genetic Polymorphism | rs274558 | ||||
Site of GPD | chr5:132385482 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G | ||||
Minor Allele Frequency | G=0.4862/2435 (Global) | ||||
Genotypes AA + AG | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
Imatinib | Drug Info | Gastrointestinal Stromal Tumors | Correlated with the decreased periorbital edema risk in patients (compare with genotype GG) | [ 4] | |
Imatinib | N.A. | Drug Toxicity | Genotypes AA + AG is associated with decreased risk of Drug Toxicity and Eye Disorder when treated with imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype GG. | [ 4] | |
Imatinib | N.A. | Eye Diseases | Genotypes AA + AG is associated with decreased risk of Drug Toxicity and Eye Disorder when treated with imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype GG. | [ 4] | |
Imatinib | N.A. | Gastrointestinal Stromal Tumors | Genotypes AA + AG is associated with decreased risk of Drug Toxicity and Eye Disorder when treated with imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype GG. | [ 4] | |
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 (GIST) may have a decreased risk for periorbital edema when treated with imatinib as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk for periorbital edema. | [ 4] | |
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 (GIST) may have a decreased risk for periorbital edema when treated with imatinib as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk for periorbital edema. | [ 4] | |
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 (GIST) may have an increased risk for periorbital edema when treated with imatinib as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk for periorbital edema. | [ 4] | |
Genetic Polymorphism | rs2631370 | ||||
Site of GPD | chr5:132368084 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>A / T>C / T>G | ||||
Minor Allele Frequency | T=0.5310/1050 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
Sunitinib | N.A. | Overall Survival | Allele C is associated with decreased overall survival when treated with sunitinib in people with Gastrointestinal Stromal Tumors as compared to allele T. | [ 2] | |
Imatinib | N.A. | Overall Survival | Allele C is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele T. | [ 3] | |
Imatinib | N.A. | Drug Toxicity | Allele C is not associated with risk of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele T. | [ 3] | |
Imatinib | N.A. | Discontinuation | Allele C is not associated with risk of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele T. | [ 3] | |
References | |||||
1 | Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy. Pharmacol Res. 2013 Feb;68(1):1-6. | ||||
2 | Genetic polymorphisms as predictive biomarker of survival in patients with gastrointestinal stromal tumors treated with sunitinib. Pharmacogenomics J. 2018 Jan;18(1):49-55. | ||||
3 | Genetic polymorphisms in ABCG2 and CYP1A2 are associated with imatinib dose reduction in patients treated for gastrointestinal stromal tumors. Pharmacogenomics J. 2019 Oct;19(5):473-479. | ||||
4 | Imatinib-induced ophthalmological side-effects in GIST patients are associated with the variations of EGFR, SLC22A1, SLC22A5 and ABCB1. Pharmacogenomics J. 2018 May 22;18(3):460-466. |
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