Detail Information of Genetic Polymorphisms
General Information of Drug Transporter (DT) | |||||
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DT ID | DTD0084 Transporter Info | ||||
Gene Name | SLC12A3 | ||||
Protein Name | Thiazide-sensitive sodium-chloride cotransporter | ||||
Gene ID | |||||
UniProt ID | |||||
Genetic Polymorphisms of DT (GPD) | |||||
Genetic Polymorphism | rs13306673 | ||||
Site of GPD | chr16:56867019 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>T | ||||
Minor Allele Frequency | T=0.1488/745 (Global) | ||||
Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Thiazides, Plain | N.A. | Colorectal Neoplasms | Genotype CC is associated with increased reduction in mean blood pressure when treated with Thiazides, plain in people with Essential hypertension as compared to genotypes CT + TT. | [ 1] | |
Thiazides, Plain | N.A. | Essential Hypertension | Genotype CC is associated with increased reduction in mean blood pressure when treated with Thiazides, plain in people with Essential hypertension as compared to genotypes CT + TT. | [ 1] | |
Thiazides | N.A. | Essential Hypertension | Correlated with the increased reduction in mean blood pressure in patients (compare with Genotypes CT + TT) | [ 1] | |
Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Thiazides, Plain | N.A. | Essential Hypertension | Patients with the CT genotype may have decreased reduction in mean blood pressure when treated with Thiazides in people with Essential hypertension as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to thiazides. | [ 1] | |
Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Thiazides, Plain | N.A. | Essential Hypertension | Patients with the TT genotype may have decreased reduction in mean blood pressure when treated with Thiazides in people with Essential hypertension as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to thiazides. | [ 1] | |
Genetic Polymorphism | rs1529927 | ||||
Site of GPD | chr16:56870675 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>G | ||||
Minor Allele Frequency | C=0.0094/47 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 6 Drugs in Total | ||||
Torsemide | Drug Info | Healthy Individuals | Correlated with the increased 24-h excretion of chloride and potassium in healthy individuals (compare with Allele G) | [ 2] | |
Furosemide | Drug Info | Healthy Individuals | Correlated with the increased 24-h excretion of chloride and potassium in healthy individuals (compare with Allele G) | [ 2] | |
Bumetanide | Drug Info | Healthy Individuals | Correlated with the increased 24-h excretion of chloride and potassium in healthy individuals (compare with Allele G) | [ 2] | |
Bumetanide | N.A. | Colorectal Neoplasms | Allele C is associated with increased 24-h excretion of chloride and potassium when treated with bumetanide, furosemide or torasemide in healthy individuals as compared to allele G. | [ 2] | |
Furosemide | N.A. | Colorectal Neoplasms | Allele C is associated with increased 24-h excretion of chloride and potassium when treated with bumetanide, furosemide or torasemide in healthy individuals as compared to allele G. | [ 2] | |
Torasemide | N.A. | Colorectal Neoplasms | Allele C is associated with increased 24-h excretion of chloride and potassium when treated with bumetanide, furosemide or torasemide in healthy individuals as compared to allele G. | [ 2] | |
Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 6 Drugs in Total | ||||
Torsemide | Drug Info | Healthy Individuals | Correlated with the increased drug response in healthy individuals (compare with genotype GG) | [ 3] | |
Furosemide | Drug Info | Healthy Individuals | Correlated with the increased drug response in healthy individuals (compare with genotype GG) | [ 3] | |
Bumetanide | Drug Info | Healthy Individuals | Correlated with the increased drug response in healthy individuals (compare with genotype GG) | [ 3] | |
Bumetanide | N.A. | Colorectal Neoplasms | Genotype CC is associated with increased response to bumetanide, furosemide and torasemide in healthy individuals as compared to genotype GG. | [ 3] | |
Furosemide | N.A. | Colorectal Neoplasms | Genotype CC is associated with increased response to bumetanide, furosemide and torasemide in healthy individuals as compared to genotype GG. | [ 3] | |
Torasemide | N.A. | Colorectal Neoplasms | Genotype CC is associated with increased response to bumetanide, furosemide and torasemide in healthy individuals as compared to genotype GG. | [ 3] | |
Genotype CG | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Bumetanide | N.A. | Colorectal Neoplasms | Patients with the CG genotype may have a better response to treatment with loop diuretics as compared to those with the GG genotype, or a poorer response to treatment as compared to those with the CC genotype. Other genetic and clinical factors may also influence response to loop diuretics. | [ 3] | |
Furosemide | N.A. | Colorectal Neoplasms | Patients with the CG genotype may have a better response to treatment with loop diuretics as compared to those with the GG genotype, or a poorer response to treatment as compared to those with the CC genotype. Other genetic and clinical factors may also influence response to loop diuretics. | [ 3] | |
Torasemide | N.A. | Colorectal Neoplasms | Patients with the CG genotype may have a better response to treatment with loop diuretics as compared to those with the GG genotype, or a poorer response to treatment as compared to those with the CC genotype. Other genetic and clinical factors may also influence response to loop diuretics. | [ 3] | |
Genotype GG | Click to Show/Hide the Full List of Affected Drugs: 3 Drugs in Total | ||||
Bumetanide | N.A. | Colorectal Neoplasms | Patients with the GG genotype may have a poorer response to treatment with loop diuretics as compared to those with the CC genotype. Other genetic and clinical factors may also influence response to loop diuretics. | [ 3] | |
Furosemide | N.A. | Colorectal Neoplasms | Patients with the GG genotype may have a poorer response to treatment with loop diuretics as compared to those with the CC genotype. Other genetic and clinical factors may also influence response to loop diuretics. | [ 3] | |
Torasemide | N.A. | Colorectal Neoplasms | Patients with the GG genotype may have a poorer response to treatment with loop diuretics as compared to those with the CC genotype. Other genetic and clinical factors may also influence response to loop diuretics. | [ 3] | |
References | |||||
1 | The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. Hypertens Res. 2004 Nov;27(11):821-33. | ||||
2 | Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. Clin Pharmacol Ther. 2007 Sep;82(3):300-9. | ||||
3 | The genetics of loop diuretic effects. Pharmacogenomics J. 2012 Feb;12(1):45-53. |
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