Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0062 Transporter Info | ||||
| Gene Name | ABCC9 | ||||
| Protein Name | Sulfonylurea receptor 2 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs704212 | ||||
| Site of GPD | chr12:21891410 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>T | ||||
| Minor Allele Frequency | T=0.2636/1320 (Global) | ||||
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
| Montelukast | Drug Info | Healthy Individuals | Correlated with the decreased drug concentration in healthy individuals (compare with allele C) | [ 1] | |
| Montelukast | N.A. | Toxic Liver Disease | Allele T is associated with decreased concentrations of montelukast in healthy individuals as compared to allele C. | [ 1] | |
| Montelukast | N.A. | Asthma | Allele T is associated with decreased concentrations of montelukast in healthy individuals as compared to allele C. | [ 1] | |
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Montelukast | N.A. | Asthma | Patients with the CC genotype may have increased plasma concentrations of montelukast as compared to patients with the TT or CT genotype. Other genetic and clinical factors may also influence the metabolism of montelukast. | [ 1] | |
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Montelukast | N.A. | Asthma | Patients with the CT genotype may have decreased plasma concentrations of montelukast as compared to patients with the CC genotype. Other genetic and clinical factors may also influence the metabolism of montelukast. | [ 1] | |
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Montelukast | N.A. | Asthma | Patients with the TT genotype may have decreased plasma concentrations of montelukast as compared to patients with the CC genotype. Other genetic and clinical factors may also influence the metabolism of montelukast. | [ 1] | |
| Genetic Polymorphism | rs11046217 | ||||
| Site of GPD | chr12:21864223 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A / G>C | ||||
| Minor Allele Frequency | G=0.9860/1951 (Global) | ||||
| Allele G | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Daunorubicin | N.A. | Cardiotoxicity | Allele G is associated with increased likelihood of cardiotoxicity when treated with daunorubicin or doxorubicin in children with Neoplasms as compared to allele C. | [ 2] | |
| Doxorubicin | N.A. | Cardiotoxicity | Allele G is associated with increased likelihood of cardiotoxicity when treated with daunorubicin or doxorubicin in children with Neoplasms as compared to allele C. | [ 2] | |
| Genetic Polymorphism | rs829074 | ||||
| Site of GPD | chr12:21824001 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C | ||||
| Minor Allele Frequency | T=0.7300/1444 (Global) | ||||
| Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Drugs For Treatment Of Tuberculosis | N.A. | Toxic Liver Disease | Allele C is not associated with risk of Toxic liver disease due to Drugs For Treatment Of Tuberculosis in people with Tuberculosis as compared to allele T. | [ 3] | |
| Genetic Polymorphism | rs11046238 | ||||
| Site of GPD | chr12:21939987 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | A>G / A>T | ||||
| Minor Allele Frequency | A=0.7700/1523 (Global) | ||||
| Allele G | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Drugs For Treatment Of Tuberculosis | N.A. | Toxic Liver Disease | Allele G is not associated with risk of Toxic liver disease due to Drugs For Treatment Of Tuberculosis in people with Tuberculosis as compared to allele A. | [ 3] | |
| Genetic Polymorphism | rs2307024 | ||||
| Site of GPD | chr12:21852069 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>A / T>G | ||||
| Minor Allele Frequency | T=0.6690/1323 (Global) | ||||
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Efavirenz | N.A. | Toxic Liver Disease | Genotype TT is not associated with concentrations of efavirenz in people with HIV Infections. | [ 4] | |
| Genetic Polymorphism | rs11046209 | ||||
| Site of GPD | chr12:21844032 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | A>T | ||||
| Minor Allele Frequency | A=0.9440/1868 (Global) | ||||
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Dexmedetomidine | N.A. | Sedation | Genotype AA is associated with increased severity of sedation when treated with dexmedetomidine in people with surgery as compared to genotypes AT + TT. | [ 5] | |
| References | |||||
| 1 | Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics. Clin Pharmacol Ther. 2018 Jul;104(1):158-168. | ||||
| 2 | Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. Pharmacogenomics. 2015;16(10):1065-76. | ||||
| 3 | Association of ABCC Gene Polymorphism With Susceptibility to Antituberculosis Drug-Induced Hepatotoxicity in Western Han Patients With Tuberculosis. J Clin Pharmacol. 2020 Mar;60(3):361-368. | ||||
| 4 | Efavirenz pharmacogenetics in a cohort of Italian patients. Int J Antimicrob Agents. 2016 Feb;47(2):117-23. | ||||
| 5 | Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine. Front Genet. 2023;14:1187415. | ||||
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