Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0512 Transporter Info | ||||
| Gene Name | KCNMA1 | ||||
| Protein Name | Calcium-activated potassium channel subunit alpha-1 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs35793 | ||||
| Site of GPD | chr10:77423280 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>G | ||||
| Minor Allele Frequency | G=0.0739/285 (Global) | ||||
| Allele G | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Quetiapine | Drug Info | Schizophrenia | Correlated with the drug response in patients | [ 1] | |
| Quetiapine | N.A. | Short Qt Syndrome 1 | Allele G is associated with response to quetiapine in people with Schizophrenia. | [ 1] | |
| Genetic Polymorphism | rs2253201 | ||||
| Site of GPD | chr10:77596639 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A / G>C | ||||
| Minor Allele Frequency | G=0.1120/221 (Global) | ||||
| Allele G | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Ace Inhibitors, Plain | N.A. | Angioedema | Allele G is associated with increased risk of Angioedema when treated with Ace Inhibitors, Plain as compared to allele A. | [ 2] | |
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Ace Inhibitors, Plain | N.A. | Angioedema | Patients with the rs2253201 AA genotype may be at a decreased risk of developing angioedema when treated with ACE inhibitors as compared to patients with the AG or GG genotypes. Other genetic and clinical factors may also influence risk of developing angioedema when treated with ACE inhibitors. | [ 2] | |
| Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Ace Inhibitors, Plain | N.A. | Angioedema | Patients with the rs2253201 AG genotype may be at an increased risk of developing angioedema when treated with ACE inhibitors as compared to patients with the AA genotype. Other genetic and clinical factors may also influence risk of developing angioedema when treated with ACE inhibitors. | [ 2] | |
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Ace Inhibitors, Plain | N.A. | Angioedema | Patients with the rs2253201 GG genotype may be at an increased risk of developing angioedema when treated with ACE inhibitors as compared to patients with the AA genotype. Other genetic and clinical factors may also influence risk of developing angioedema when treated with ACE inhibitors. | [ 2] | |
| Genetic Polymorphism | rs16934182 | ||||
| Site of GPD | chr10:77018976 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A | ||||
| Minor Allele Frequency | G=0.6250/1236 (Global) | ||||
| Genotypes AA + AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Dexmedetomidine | N.A. | Angioedema | Genotypes AA + AG is associated with decreased dose of dexmedetomidine in people with surgery as compared to genotype GG. | [ 3] | |
| References | |||||
| 1 | Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study. Pharmacogenomics. 2012 Aug;13(11):1227-37. | ||||
| 2 | Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment. Pharmacogenomics J. 2020 Dec;20(6):770-783. | ||||
| 3 | Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine. Front Genet. 2023;14:1187415. | ||||
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