Detail Information of Genetic Polymorphisms
General Information of Drug Transporter (DT) | |||||
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DT ID | DTD0518 Transporter Info | ||||
Gene Name | CACNA1A | ||||
Protein Name | Voltage-gated calcium channel alpha Cav2.1 | ||||
Gene ID | |||||
UniProt ID | |||||
Genetic Polymorphisms of DT (GPD) | |||||
Genetic Polymorphism | rs2112460 | ||||
Site of GPD | chr19:13479598 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A | ||||
Minor Allele Frequency | A=0.4217/2112 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Antidepressants | N.A. | Hypertension | Allele A is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G. | [ 1] | |
Antidepressants | N.A. | Major Depressive Disorder | Allele A is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G. | [ 1] | |
Antidepressants | N.A. | Major Depressive Disorder | Correlated with the increased drug response in patients (compare with allele G) | [ 1] | |
Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antidepressants | N.A. | Major Depressive Disorder | Patients with the AA genotype and major depressive disorder may have increased response to antidepressants compared to patients with the AG and GG genotypes. Other factors may affect response to antidepressants. | [ 1] | |
Genotype AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antidepressants | N.A. | Major Depressive Disorder | Patients with the AG genotype and major depressive disorder may have increased response to antidepressants compared to patients with the GG genotype. Other factors may affect response to antidepressants. | [ 1] | |
Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antidepressants | N.A. | Major Depressive Disorder | Patients with the GG genotype and major depressive disorder may have decreased response to antidepressants compared to patients with the AA and AG genotypes. Other factors may affect response to antidepressants. | [ 1] | |
Genetic Polymorphism | rs2074880 | ||||
Site of GPD | chr19:13261817 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>C | ||||
Minor Allele Frequency | A=0.7240/1432 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Hypertension | Allele A is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele C. | [ 2] | |
Genetic Polymorphism | rs10416717 | ||||
Site of GPD | chr19:13410714 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G / A>T | ||||
Minor Allele Frequency | A=0.5390/1066 (Global) | ||||
Allele G | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Hypertension | Allele G is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele A. | [ 2] | |
Genetic Polymorphism | rs7254351 | ||||
Site of GPD | chr19:13207166 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>T | ||||
Minor Allele Frequency | G=0.4910/971 (Global) | ||||
Allele G | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Hypertension | Allele G is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele T. | [ 2] | |
Genetic Polymorphism | rs2248069 | ||||
Site of GPD | chr19:13334394 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>G / C>T | ||||
Minor Allele Frequency | C=0.3540/700 (Global) | ||||
Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Hypertension | Allele T is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele C. | [ 2] | |
Genetic Polymorphism | rs16030 | ||||
Site of GPD | chr19:13277090 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G | ||||
Minor Allele Frequency | A=0.8340/1650 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Hypertension | Allele A is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele G. | [ 2] | |
References | |||||
1 | Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway. BMC Psychiatry. 2016 Apr 18;16:106. | ||||
2 | Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population. Seizure. 2015 Aug;30:64-9. |
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