Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0535 Transporter Info | ||||
| Gene Name | CACNB2 | ||||
| Protein Name | Voltage-dependent L-type calcium channel beta-2 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs4237348 | ||||
| Site of GPD | chr10:18509274 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C | ||||
| Minor Allele Frequency | C=0.4720/1750 (Global) | ||||
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Antipsychotics | N.A. | Hypotensive Disorder | Genotype CC is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotype CT. | [ 1] | |
| Antipsychotics | N.A. | Schizophrenia | Correlated with the increased drug response in patients (compare with genotype CT) | [ 1] | |
| Genetic Polymorphism | rs10764319 | ||||
| Site of GPD | chr10:18139486 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>G / C>T | ||||
| Minor Allele Frequency | C=0.6380/1262 (Global) | ||||
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Dexmedetomidine | N.A. | Bradycardia | Genotype CT is associated with decreased likelihood of Bradycardia or Hypotensive disorder when treated with dexmedetomidine in children with Surgical procedure as compared to genotypes CC + TT. | [ 2] | |
| Dexmedetomidine | N.A. | Hypotensive Disorder | Genotype CT is associated with decreased likelihood of Bradycardia or Hypotensive disorder when treated with dexmedetomidine in children with Surgical procedure as compared to genotypes CC + TT. | [ 2] | |
| Genetic Polymorphism | rs2357928 | ||||
| Site of GPD | chr10:18260712 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A / G>C | ||||
| Minor Allele Frequency | G=0.4110/813 (Global) | ||||
| Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Verapamil | N.A. | Hypotensive Disorder | Genotype GG is associated with increased risk of adverse outcome when treated with verapamil in people with Hypertension and Coronary Artery Disease. | [ 3] | |
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Verapamil | N.A. | Hypotensive Disorder | Genotype AA is not associated with increased risk of adverse outcome when treated with verapamil in people with Hypertension and Coronary Artery Disease. | [ 3] | |
| Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Verapamil | N.A. | Hypotensive Disorder | Genotype AG is not associated with increased risk of adverse outcome when treated with verapamil in people with Hypertension and Coronary Artery Disease. | [ 3] | |
| Genetic Polymorphism | rs11014166 | ||||
| Site of GPD | chr10:18419869 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | A>T | ||||
| Minor Allele Frequency | A=0.7880/1559 (Global) | ||||
| Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Verapamil | N.A. | Hypotensive Disorder | Genotype AA is not associated with increased risk of adverse outcome when treated with verapamil in people with Hypertension and Coronary Artery Disease. | [ 3] | |
| Genotypes AT + TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Verapamil | N.A. | Hypotensive Disorder | Genotypes AT + TT are associated with increased risk of adverse outcome when treated with verapamil in people with Hypertension and Coronary Artery Disease. | [ 3] | |
| Genetic Polymorphism | rs12245847 | ||||
| Site of GPD | chr10:18249730 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>A / T>C | ||||
| Minor Allele Frequency | T=0.5100/1009 (Global) | ||||
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Antipsychotics | N.A. | Hypotensive Disorder | Genotype TT is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotype CT. | [ 1] | |
| Genetic Polymorphism | rs982003 | ||||
| Site of GPD | chr10:18418367 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>A / C>G / C>T | ||||
| Minor Allele Frequency | C=0.2560/506 (Global) | ||||
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Antipsychotics | N.A. | Hypotensive Disorder | Genotype CC is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotype TT. | [ 1] | |
| Genetic Polymorphism | rs10741058 | ||||
| Site of GPD | chr10:18427216 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C | ||||
| Minor Allele Frequency | T=0.0970/191 (Global) | ||||
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Antipsychotics | N.A. | Hypotensive Disorder | Genotype TT is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotype CC. | [ 1] | |
| Genetic Polymorphism | rs1277733 | ||||
| Site of GPD | chr10:18273609 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>T | ||||
| Minor Allele Frequency | C=0.2090/413 (Global) | ||||
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Antipsychotics | N.A. | Hypotensive Disorder | Genotype TT is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotype CC. | [ 1] | |
| Genetic Polymorphism | rs560765906 | ||||
| Site of GPD | chr10:18148096 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | A>G / A>T | ||||
| Minor Allele Frequency | A=0.9800/1939 (Global) | ||||
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Dexmedetomidine | N.A. | Hypotensive Disorder | Allele T is associated with decreased clearance of dexmedetomidine in children with Pain, Postoperative as compared to allele A. | [ 4] | |
| References | |||||
| 1 | Variation within voltage-gated calcium channel genes and antipsychotic treatment response in a South African first episode schizophrenia cohort. Pharmacogenomics J. 2019 Feb;19(1):109-114. | ||||
| 2 | Pharmacogenetic and pharmacokinetic factors for dexmedetomidine-associated hemodynamic instability in pediatric patients. Front Pharmacol. 2024;15:1515523. | ||||
| 3 | Genetic variation in the beta2 subunit of the voltage-gated calcium channel and pharmacogenetic association with adverse cardiovascular outcomes in the INternational VErapamil SR-Trandolapril STudy GENEtic Substudy (INVEST-GENES). Circ Cardiovasc Genet. 2010 Dec;3(6):548-55. | ||||
| 4 | Variant-based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients. Clin Transl Sci. 2023 Sep;16(9):1628-1638. | ||||
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