Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0151 Transporter Info | ||||
| Gene Name | SLC22A4 | ||||
| Protein Name | Organic cation/carnitine transporter 1 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs1050152 | ||||
| Site of GPD | chr5:132340627 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>T | ||||
| Minor Allele Frequency | T=0.1344/673 (Global) | ||||
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 8 Drugs in Total | ||||
| Imatinib | Drug Info | Gastrointestinal Stromal Tumors | Correlated with the decreased drug response in patients (compare with genotypes CC + CT) | [ 1] | |
| Imatinib | Drug Info | Bcr-Abl Positive Chronic Myelogenous Leukemia | Correlated with the decreased drug response in patients (compare with genotypes CC + CT); Irrelevant to the drug response in patients (compare with genotypes CC + CT) | [ 2] | |
| Imatinib | N.A. | Breast Neoplasms | Genotype TT is associated with decreased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotypes CC + CT. | [ 1] | |
| Imatinib | N.A. | Discontinuation | Genotype TT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT. | [ 2] | |
| Imatinib | N.A. | Chronic Myelogenous Leukemia, Bcr-abl1 Positive | Genotype TT is associated with decreased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotypes CC + CT. | [ 1] | |
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Genotype TT is associated with decreased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotypes CC + CT. | [ 1] | |
| Imatinib | N.A. | Chronic Myelogenous Leukemia, Bcr-abl1 Positive | Genotype TT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT. | [ 2] | |
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Genotype TT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT. | [ 2] | |
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Busulfan | N.A. | Breast Neoplasms | Genotype CC is not associated with clearance of busulfan in children with Transplantation as compared to genotype TT. | [ 3] | |
| Imatinib | N.A. | Chronic Myelogenous Leukemia, Bcr-abl1 Positive | Patients with the CC genotype and cancer may have a better response to treatment with imatinib as compared to patients with the TT genotype. Other genetic and clinical factors may also influence time to progression. | [ 1] | |
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the CC genotype and cancer may have a better response to treatment with imatinib as compared to patients with the TT genotype. Other genetic and clinical factors may also influence time to progression. | [ 1] | |
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
| Metformin | N.A. | Breast Neoplasms | Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. | [ 4] | |
| Imatinib | N.A. | Breast Neoplasms | Allele T is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele C. | [ 5] | |
| Imatinib | N.A. | Drug Toxicity | Allele T is not associated with risk of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele C. | [ 5] | |
| Imatinib | N.A. | Discontinuation | Allele T is not associated with risk of Drug Toxicity and Discontinuation of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele C. | [ 5] | |
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Ustekinumab | N.A. | Discontinuation | Genotype CT is associated with increased response to ustekinumab in people with Psoriasis as compared to genotype CC. | [ 6] | |
| Imatinib | N.A. | Chronic Myelogenous Leukemia, Bcr-abl1 Positive | Patients with the CT genotype and cancer may have a better response to treatment with imatinib as compared to patients with the TT genotype. Other genetic and clinical factors may also influence time to progression. | [ 1] | |
| Imatinib | N.A. | Gastrointestinal Stromal Tumors | Patients with the CT genotype and cancer may have a better response to treatment with imatinib as compared to patients with the TT genotype. Other genetic and clinical factors may also influence time to progression. | [ 1] | |
| Genetic Polymorphism | rs272893 | ||||
| Site of GPD | chr5:132327369 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C / T>G | ||||
| Minor Allele Frequency | T=0.4330/856 (Global) | ||||
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Metformin | N.A. | Breast Neoplasms | Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. | [ 4] | |
| 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 | Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy. Haematologica. 2013 Feb;98(2):193-200. | ||||
| 3 | Effect of genetic variants GSTA1 and CYP39A1 and age on busulfan clearance in pediatric patients undergoing hematopoietic stem cell transplantation. Pharmacogenomics. 2013 Nov;14(14):1683-90. | ||||
| 4 | Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta-Analysis. Clin Pharmacol Ther. 2017 Jun;101(6):763-772. | ||||
| 5 | 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. | ||||
| 6 | Pharmacogenetics of ustekinumab in patients with moderate-to-severe plaque psoriasis. Pharmacogenomics. 2017 Jan;18(2):157-164. | ||||
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