Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0516 Transporter Info | ||||
| Gene Name | ATP2B1 | ||||
| Protein Name | Plasma membrane calcium-transporting ATPase 1 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs12817819 | ||||
| Site of GPD | chr12:89645549 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>T | ||||
| Minor Allele Frequency | T=0.0731/366 (Global) | ||||
| Genotypes CT + TT | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
| Antihypertensives | N.A. | Major Adverse Cardiac Events (mace) | Genotypes CT + TT are associated with increased resistance to Antihypertensives in people with Coronary Artery Disease or Hypertension as compared to genotype CC. | [ 1] | |
| Antihypertensives | N.A. | Coronary Artery Disease | Genotypes CT + TT are associated with increased resistance to Antihypertensives in people with Coronary Artery Disease or Hypertension as compared to genotype CC. | [ 1] | |
| Antihypertensives | N.A. | Hypertension | Genotypes CT + TT are associated with increased resistance to Antihypertensives in people with Coronary Artery Disease or Hypertension as compared to genotype CC. | [ 1] | |
| Antihypertensives | N.A. | Coronary Artery Disease; Hypertension | Correlated with the increased drug resistance in patients (compare with genotype CC) | [ 1] | |
| Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Antihypertensives | N.A. | Coronary Artery Disease | Patients with the CC genotype who are treated with antihypertensives may have a lower risk for resistant hypertension as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence a patient's risk for resistant hypertension. | [ 1] | |
| Antihypertensives | N.A. | Hypertension | Patients with the CC genotype who are treated with antihypertensives may have a lower risk for resistant hypertension as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence a patient's risk for resistant hypertension. | [ 1] | |
| Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Antihypertensives | N.A. | Coronary Artery Disease | Patients with the CT genotype who are treated with antihypertensives may have an increased risk for resistant hypertension as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's risk for resistant hypertension. | [ 1] | |
| Antihypertensives | N.A. | Hypertension | Patients with the CT genotype who are treated with antihypertensives may have an increased risk for resistant hypertension as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's risk for resistant hypertension. | [ 1] | |
| Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
| Antihypertensives | N.A. | Coronary Artery Disease | Patients with the TT genotype who are treated with antihypertensives may have an increased risk for resistant hypertension as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's risk for resistant hypertension. | [ 1] | |
| Antihypertensives | N.A. | Hypertension | Patients with the TT genotype who are treated with antihypertensives may have an increased risk for resistant hypertension as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's risk for resistant hypertension. | [ 1] | |
| Genetic Polymorphism | rs1401982 | ||||
| Site of GPD | chr12:89595822 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A / G>T | ||||
| Minor Allele Frequency | G=0.4150/821 (Global) | ||||
| Genotypes AA + AG | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Antihypertensives | N.A. | Resistant Hypertension | Genotypes AA + AG is associated with increased likelihood of resistant hypertension when treated with Antihypertensives in people with Hypertension as compared to genotype GG. | [ 2] | |
| Genetic Polymorphism | rs17381194 | ||||
| Site of GPD | chr12:89617318 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | T>C | ||||
| Minor Allele Frequency | T=0.9410/1862 (Global) | ||||
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Hmg Coa Reductase Inhibitors | N.A. | Myalgia | Allele T is associated with increased risk of Myalgia unspecified when treated with hmg coa reductase inhibitors in people with Hyperlipidemias as compared to allele C. | [ 3] | |
| References | |||||
| 1 | Large-scale gene-centric analysis identifies polymorphisms for resistant hypertension. J Am Heart Assoc. 2014 Nov 10;3(6):e001398. | ||||
| 2 | ATP2B1 gene polymorphisms associated with resistant hypertension in the Japanese population. J Clin Hypertens (Greenwich). 2024 Apr;26(4):355-362. | ||||
| 3 | Mechanisms of statin-induced myalgia assessed by physiogenomic associations. Atherosclerosis. 2011 Oct;218(2):451-6. | ||||
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