General Information of Drug Transporter (DT)
DT ID	DTD0014 Transporter Info
Gene Name	ABCB11
Protein Name	Bile salt export pump
Gene ID	8647
UniProt ID	O95342
Genetic Polymorphisms of DT (GPD)
Genetic Polymorphism	rs2287622
Site of GPD	chr2:168973818 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>C / A>G / A>T
Minor Allele Frequency	A=0.3892/1500 (Global)
Allele G	Click to Show/Hide the Full List of Affected Drugs:           2 Drugs in Total
Rosuvastatin	N.A.	Gastrointestinal Stromal Tumors	Allele G is associated with increased exposure to rosuvastatin in healthy individuals as compared to allele A.		[ 1]
Ceftriaxone	N.A.	Cardiotoxicity	Allele G is not associated with concentrations of ceftriaxone in people with Central Nervous System Infections as compared to allele A.		[ 2]
Allele A	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Bosentan	N.A.	Drug-induced Liver Injury	Allele A is not associated with increased risk of drug-induced liver injury when treated with bosentan in people with Hypertension, Pulmonary as compared to allele G.		[ 3]
Genotype CC	Click to Show/Hide the Full List of Affected Drugs:           2 Drugs in Total
Bile acid	N.A.	Intrahepatic cholestasis of pregnancy	Correlated with the development of intrahepatic cholestasis of pregnancy (compare with genotypes TT + TC)		[ 4]
Bile acid	N.A.	Chronic hepatitis C	Correlated with the increased plasma bile acid levels (compare with genotype TT + TC)		[ 5]
Genetic Polymorphism	rs7579275
Site of GPD	chr2:208188356 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>C / A>G
Minor Allele Frequency	A=0.8680/1717 (Global)
Allele G	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Rosuvastatin	N.A.	Gastrointestinal Stromal Tumors	Allele G is associated with increased exposure to rosuvastatin in healthy individuals as compared to allele A.		[ 1]
Genetic Polymorphism	rs4148776
Site of GPD	chr2:169014372 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>G
Minor Allele Frequency	A=0.8590/1699 (Global)
Allele G	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Glyburide	N.A.	Gastrointestinal Stromal Tumors	Allele G is associated with increased response to glibenclamide in people with as compared to allele A.		[ 6]
Genetic Polymorphism	rs10497346
Site of GPD	chr2:168914686 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	T>C
Minor Allele Frequency	T=0.8810/1743 (Global)
Allele C	Click to Show/Hide the Full List of Affected Drugs:           2 Drugs in Total
Daunorubicin	N.A.	Cardiotoxicity	Allele C is associated with increased likelihood of cardiotoxicity when treated with daunorubicin or doxorubicin in children with Neoplasms as compared to allele T.		[ 7]
Doxorubicin	N.A.	Cardiotoxicity	Allele C is associated with increased likelihood of cardiotoxicity when treated with daunorubicin or doxorubicin in children with Neoplasms as compared to allele T.		[ 7]
Genetic Polymorphism	rs11568367
Site of GPD	chr2:168970082 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	T>C
Minor Allele Frequency	T=0.9710/1921 (Global)
Allele C	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Bosentan	N.A.	Drug-induced Liver Injury	Allele C is not associated with increased risk of drug-induced liver injury when treated with bosentan in people with Hypertension, Pulmonary as compared to allele T.		[ 3]
Genetic Polymorphism	rs4148777
Site of GPD	chr2:169013391 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>G
Minor Allele Frequency	A=0.9540/1887 (Global)
Allele A	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Bosentan	N.A.	Drug-induced Liver Injury	Allele A is not associated with increased risk of drug-induced liver injury when treated with bosentan in people with Hypertension, Pulmonary as compared to allele G.		[ 3]
References
1	An African-specific profile of pharmacogene variants for rosuvastatin plasma variability: limited role for SLCO1B1 c.521T>C and ABCG2 c.421A>C. Pharmacogenomics J. 2019 Jun;19(3):240-248.
2	Effect of ABCC2 and ABCG2 Gene Polymorphisms and CSF-to-Serum Albumin Ratio on Ceftriaxone Plasma and Cerebrospinal Fluid Concentrations. J Clin Pharmacol. 2018 Dec;58(12):1550-1556.
3	CYP2C9, SLCO1B1, SLCO1B3, and ABCB11 polymorphisms in patients with bosentan-induced liver toxicity. Clin Pharmacol Ther. 2014 Jun;95(6):583-5.
4	The role of ABC transporters' gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy. Ginekol Pol. 2018;89(7):393-397.
5	Diagnosis of cirrhosis in patients with chronic hepatitis C genotype 4: Role of ABCB11 genotype polymorphism and plasma bile acid levels. Turk J Gastroenterol. 2018 May;29(3):299-307.
6	Genetic and Clinical Predictive Factors of Sulfonylurea Failure in Patients with Type 2 Diabetes. Diabetes Technol Ther. 2016 Sep;18(9):586-93.
7	Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. Pharmacogenomics. 2015;16(10):1065-76.

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