Effect of drug transporter pharmacogenetics on cholestasis

Bibliography

• Dietrich CG, Geier A, Oude Elferink RPJ. ABC of oral bioavailability: transporters as gatekeepers in the gut. Gut 2003;52:1788-95
   PubMed Web of Science ®Google Scholar
• Strassburg CP. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin Gastroenterol 2010;24:555-71
   PubMed Web of Science ®Google Scholar
• Davit-Spraul A, Fabre M, Branchereau S, et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology 2010;51:1645-55
   PubMed Web of Science ®Google Scholar
• Strautnieks SS, Byrne JA, Pawlikowska L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008;134:1203-14
   PubMed Web of Science ®Google Scholar
• Noe J, Kullak-Ublick GA, Jochum W, et al. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. J Hepatol 2005;43:536-43
   PubMed Web of Science ®Google Scholar
• Knisely AS, Strautnieks SS, Meier Y, et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006;44:478-86
   PubMed Web of Science ®Google Scholar
• Strubbe B, Geerts A, Van Vlierberghe H, Colle I. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review. Acta Gastroenterol Belg 2012;75:405-10
   PubMed Web of Science ®Google Scholar
• Van der Woerd WL, van Mil SWC, Stapelbroek JM, et al. Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. Best Pract Res Clin Gastroenterol 2010;24:541-53
   PubMed Web of Science ®Google Scholar
• Kremer AE, Martens JJ, Kulik W, et al. Lysophosphatidic acid is a potential mediator of cholestatic pruritus. Gastroenterology 2010;139:1008-18. 1018.e1
   PubMed Web of Science ®Google Scholar
• Vallejo M, Briz O, Serrano MA, et al. Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. J Hepatol 2006;44:1150-7
   PubMed Web of Science ®Google Scholar
• Geier A, Dietrich CG, Gerloff T, et al. Regulation of basolateral organic anion transporters in ethinylestradiol-induced cholestasis in the rat. Biochim Biophys Acta 2003;1609:87-94
   PubMed Web of Science ®Google Scholar
• Jacquemin E, De Vree JM, Cresteil D, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-58
   PubMed Web of Science ®Google Scholar
• Pathak B, Sheibani L, Lee RH. Cholestasis of pregnancy. Obstet Gynecol Clin North Am 2010;37:269-82
   PubMed Web of Science ®Google Scholar
• Geier A, Wagner M, Dietrich CG, Trauner M. Principles of hepatic organic anion transporter regulation during cholestasis, inflammation and liver regeneration. Biochim Biophys Acta 2007;1773:283-308
   PubMed Web of Science ®Google Scholar
• Cuperus FJC, Claudel T, Gautherot J, et al. The role of canalicular ABC transporters in cholestasis. Drug Metab Dispos 2014;42:546-60
   PubMed Web of Science ®Google Scholar
• Lee WM. Drug-induced hepatotoxicity. N Engl J Med 2003;349:474-85
   PubMed Web of Science ®Google Scholar
• Meier Y, Cavallaro M, Roos M, et al. Incidence of drug-induced liver injury in medical inpatients. Eur J Clin Pharmacol 2005;61:135-43
   PubMed Web of Science ®Google Scholar
• Dietrich CG, Götz M, Fischbach W, Al-Taie O. [Severe hepatitis and subacute liver failure with “fast track” cirrhosis in an elderly lady]. Z Gastroenterol 2010;48:398-400
   PubMed Web of Science ®Google Scholar
• Schimanski CC, Burg J, Möhler M, et al. Phenprocoumon-induced liver disease ranges from mild acute hepatitis to (sub-) acute liver failure. J Hepatol 2004;41:67-74
   PubMed Web of Science ®Google Scholar
• Shapiro MA, Lewis JH. Causality assessment of drug-induced hepatotoxicity: promises and pitfalls. Clin Liver Dis 2007;11:477-505. v
   PubMedGoogle Scholar
• Morgan RE, Trauner M, van Staden CJ, et al. Interference with bile salt export pump function is a susceptibility factor for human liver injury in drug development. Toxicol Sci 2010;118:485-500
   PubMed Web of Science ®Google Scholar
• Stieger B, Fattinger K, Madon J, et al. Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver. Gastroenterology 2000;118:422-30
   PubMed Web of Science ®Google Scholar
• Pauli-Magnus C, Meier PJ, Stieger B. Genetic determinants of drug-induced cholestasis and intrahepatic cholestasis of pregnancy. Semin Liver Dis 2010;30:147-59
   PubMed Web of Science ®Google Scholar
• Meier PJ, Stieger B. Bile salt transporters. Annu Rev Physiol 2002;64:635-61
   PubMed Web of Science ®Google Scholar
• Visser WE, Wong WS, van Mullem AAA, et al. Study of the transport of thyroid hormone by transporters of the SLC10 family. Mol Cell Endocrinol 2010;315:138-45
   PubMed Web of Science ®Google Scholar
• Ho RH, Tirona RG, Leake BF, et al. Drug and bile acid transporters in rosuvastatin hepatic uptake: function, expression, and pharmacogenetics. Gastroenterology 2006;130:1793-806
   PubMed Web of Science ®Google Scholar
• Yan H, Zhong G, Xu G, et al. Sodium taurocholate cotransporting polypeptide is a functional receptor for human hepatitis B and D virus. Elife 2012;1:e00049
   PubMed Web of Science ®Google Scholar
• Niemi M. Transporter pharmacogenetics and statin toxicity. Clin Pharmacol Ther 2010;87:130-3
   PubMed Web of Science ®Google Scholar
• Mahagita C, Grassl SM, Piyachaturawat P, Ballatori N. Human organic anion transporter 1B1 and 1B3 function as bidirectional carriers and do not mediate GSH-bile acid cotransport. Am J Physiol Gastrointest Liver Physiol 2007;293:G271-8
   PubMed Web of Science ®Google Scholar
• Le Vee M, Lecureur V, Stieger B, Fardel O. Regulation of drug transporter expression in human hepatocytes exposed to the proinflammatory cytokines tumor necrosis factor-alpha or interleukin-6. Drug Metab Dispos 2009;37:685-93
   PubMed Web of Science ®Google Scholar
• Meyer Zu Schwabedissen HE, Böttcher K, Chaudhry A, et al. Liver X receptor alpha and farnesoid X receptor are major transcriptional regulators of OATP1B1. Hepatology 2010;52:1797-807
   PubMed Web of Science ®Google Scholar
• Gui C, Miao Y, Thompson L, et al. Effect of pregnane X receptor ligands on transport mediated by human OATP1B1 and OATP1B3. Eur J Pharmacol 2008;584:57-65
   PubMed Web of Science ®Google Scholar
• Van de Steeg E, Stránecký V, Hartmannová H, et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest 2012;122:519-28
   PubMed Web of Science ®Google Scholar
• Shitara Y, Maeda K, Ikejiri K, et al. Clinical significance of organic anion transporting polypeptides (OATPs) in drug disposition: their roles in hepatic clearance and intestinal absorption. Biopharm Drug Dispos 2013;34:45-78
   PubMed Web of Science ®Google Scholar
• Gong IY, Kim RB. Impact of genetic variation in OATP transporters to drug disposition and response. Drug Metab Pharmacokinet 2013;28:4-18
   PubMed Web of Science ®Google Scholar
• Zhang W, He Y-J, Gan Z, et al. OATP1B1 polymorphism is a major determinant of serum bilirubin level but not associated with rifampicin-mediated bilirubin elevation. Clin Exp Pharmacol Physiol 2007;34:1240-4
   PubMed Web of Science ®Google Scholar
• Koepsell H. The SLC22 family with transporters of organic cations, anions and zwitterions. Mol Aspects Med 2013;34:413-35
   PubMed Web of Science ®Google Scholar
• Brüggemann M, Trautmann H, Hoelzer D, et al. Multidrug resistance-associated protein 4 (MRP4) gene polymorphisms and treatment response in adult acute lymphoblastic leukemia. Blood 2009;114:5400-1. author reply 5401-5402
   PubMed Web of Science ®Google Scholar
• Ansari M, Sauty G, Labuda M, et al. Polymorphism in multidrug resistance-associated protein gene 3 is associated with outcomes in childhood acute lymphoblastic leukemia. Pharmacogenomics J 2012;12:386-94
   PubMed Web of Science ®Google Scholar
• Krishnamurthy P, Schwab M, Takenaka K, et al. Transporter-mediated protection against thiopurine-induced hematopoietic toxicity. Cancer Res 2008;68:4983-9
   PubMed Web of Science ®Google Scholar
• Köck K, Ferslew BC, Netterberg I, et al. Risk factors for development of cholestatic drug-induced liver injury: inhibition of hepatic basolateral bile acid transporters multidrug resistance-associated proteins 3 and 4. Drug Metab Dispos 2014;42:665-74
   PubMed Web of Science ®Google Scholar
• Seward DJ, Koh AS, Boyer JL, Ballatori N. Functional complementation between a novel mammalian polygenic transport complex and an evolutionarily ancient organic solute transporter, OSTalpha-OSTbeta. J Biol Chem 2003;278:27473-82
   PubMed Web of Science ®Google Scholar
• Ballatori N, Christian WV, Lee JY, et al. OSTalpha-OSTbeta: a major basolateral bile acid and steroid transporter in human intestinal, renal, and biliary epithelia. Hepatology 2005;42:1270-9
   PubMed Web of Science ®Google Scholar
• Boyer JL, Trauner M, Mennone A, et al. Upregulation of a basolateral FXR-dependent bile acid efflux transporter OSTalpha-OSTbeta in cholestasis in humans and rodents. Am J Physiol Gastrointest Liver Physiol 2006;290:G1124-30
   PubMed Web of Science ®Google Scholar
• HGNC. List of ATP binding cassette transporters genes from the HUGO gene nomenclature committee. ATP binding cassette transporters. Available from: www.genenames.org/genefamilies/ABC [Last accessed 29 August 2014]
   Google Scholar
• Borst P, Schinkel AH. P-glycoprotein ABCB1: a major player in drug handling by mammals. J Clin Invest 2013;123:4131-3
   PubMed Web of Science ®Google Scholar
• Brambila-Tapia AJL. MDR1 (ABCB1) polymorphisms: functional effects and clinical implications. Rev Invest Clin 2013;65:445-54
   PubMed Web of Science ®Google Scholar
• Dubin IN, Johnson FB. Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. Medicine (Baltimore) 1954;33:155-97
   PubMed Web of Science ®Google Scholar
• Paulusma CC, Bosma PJ, Zaman GJ, et al. Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 1996;271:1126-8
   PubMed Web of Science ®Google Scholar
• Evers R, Kool M, van Deemter L, et al. Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA. J Clin Invest 1998;101:1310-19
   PubMed Web of Science ®Google Scholar
• Dietrich CG, de Waart DR, Ottenhoff R, et al. Increased bioavailability of the food-derived carcinogen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine in MRP2-deficient rats. Mol Pharmacol 2001;59:974-80
   PubMed Web of Science ®Google Scholar
• Fardel O, Jigorel E, Le Vee M, Payen L. Physiological, pharmacological and clinical features of the multidrug resistance protein 2. Biomed Pharmacother 2005;59:104-14
   PubMed Web of Science ®Google Scholar
• Dietrich CG, Geier A, Salein N, et al. Consequences of bile duct obstruction on intestinal expression and function of multidrug resistance-associated protein 2. Gastroenterology 2004;126:1044-53
   PubMed Web of Science ®Google Scholar
• Fattinger K, Funk C, Pantze M, et al. The endothelin antagonist bosentan inhibits the canalicular bile salt export pump: a potential mechanism for hepatic adverse reactions. Clin Pharmacol Ther 2001;69:223-31
   PubMed Web of Science ®Google Scholar
• Fouassier L, Kinnman N, Lefèvre G, et al. Contribution of mrp2 in alterations of canalicular bile formation by the endothelin antagonist bosentan. J Hepatol 2002;37:184-91
   PubMed Web of Science ®Google Scholar
• Mano Y, Usui T, Kamimura H. Effects of bosentan, an endothelin receptor antagonist, on bile salt export pump and multidrug resistance-associated protein 2. Biopharm Drug Dispos 2007;28:13-18
   PubMed Web of Science ®Google Scholar
• Dietrich CG, Ottenhoff R, de Waart DR, Oude Elferink RP. Role of MRP2 and GSH in intrahepatic cycling of toxins. Toxicology 2001;167:73-81
   PubMed Web of Science ®Google Scholar
• Meier Y, Zodan T, Lang C, et al. Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol 2008;14:38-45
   PubMed Web of Science ®Google Scholar
• Sookoian S, Castaño G, Burgueño A, et al. Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy. J Hepatol 2008;48:125-32
   PubMed Web of Science ®Google Scholar
• Sookoian S, Castano G, Pirola C-J. Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy. World J Gastroenterol 2008;14:2126-7
   PubMed Web of Science ®Google Scholar
• Castaño G, Burgueño A, Fernández Gianotti T, et al. The influence of common gene variants of the xenobiotic receptor (PXR) in genetic susceptibility to intrahepatic cholestasis of pregnancy. Aliment Pharmacol Ther 2010;31:583-92
   PubMed Web of Science ®Google Scholar
• Daly AK, Aithal GP, Leathart JBS, et al. Genetic susceptibility to diclofenac-induced hepatotoxicity: contribution of UGT2B7, CYP2C8, and ABCC2 genotypes. Gastroenterology 2007;132:272-81
   PubMed Web of Science ®Google Scholar
• Choi JH, Ahn BM, Yi J, et al. MRP2 haplotypes confer differential susceptibility to toxic liver injury. Pharmacogenet Genomics 2007;17:403-15
   PubMed Web of Science ®Google Scholar
• Urban TJ, Shen Y, Stolz A, et al. Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. Pharmacogenet Genomics 2012;22:784-95
   PubMed Web of Science ®Google Scholar
• Floreani A, Carderi I, Variola A, et al. A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus. Hepatology 2006;43:1152-4
   PubMed Web of Science ®Google Scholar
• Hohenester S, Wenniger LM de B, Paulusma CC, et al. A biliary HCO3-umbrella constitutes a protective mechanism against bile acid-induced injury in human cholangiocytes. Hepatology 2012;55:173-83
   PubMed Web of Science ®Google Scholar
• Medina JF. Role of the anion exchanger 2 in the pathogenesis and treatment of primary biliary cirrhosis. Dig Dis 2011;29:103-12
   PubMed Web of Science ®Google Scholar
• Juran BD, Atkinson EJ, Larson JJ, et al. Common genetic variation and haplotypes of the anion exchanger SLC4A2 in primary biliary cirrhosis. Am J Gastroenterol 2009;104:1406-11
   PubMed Web of Science ®Google Scholar
• Aiba Y, Nakamura M, Joshita S, et al. Genetic polymorphisms in CTLA4 and SLC4A2 are differentially associated with the pathogenesis of primary biliary cirrhosis in Japanese patients. J Gastroenterol 2011;46:1203-12
   PubMed Web of Science ®Google Scholar
• Banales JM, Sáez E, Uriz M, et al. Up-regulation of microRNA 506 leads to decreased Cl-/HCO3- anion exchanger 2 expression in biliary epithelium of patients with primary biliary cirrhosis. Hepatology 2012;56:687-97
   PubMed Web of Science ®Google Scholar
• Blazquez AG, Briz O, Romero MR, et al. Characterization of the role of ABCG2 as a bile acid transporter in liver and placenta. Mol Pharmacol 2012;81:273-83
   PubMed Web of Science ®Google Scholar
• Lemmen J, Tozakidis IEP, Galla H-J. Pregnane X receptor upregulates ABC-transporter Abcg2 and Abcb1 at the blood-brain barrier. Brain Res 2013;1491:1-13
   PubMed Web of Science ®Google Scholar
• Lemmen J, Tozakidis IEP, Bele P, Galla H-J. Constitutive androstane receptor upregulates Abcb1 and Abcg2 at the blood-brain barrier after CITCO activation. Brain Res 2013;1501:68-80
   PubMed Web of Science ®Google Scholar
• Mennone A, Soroka CJ, Harry KM, Boyer JL. Role of breast cancer resistance protein in the adaptive response to cholestasis. Drug Metab Dispos 2010;38:1673-8
   PubMed Web of Science ®Google Scholar
• Hirano M, Maeda K, Hayashi H, et al. Bile salt export pump (BSEP/ABCB11) can transport a nonbile acid substrate. pravastatin. J Pharmacol Exp Ther 2005;314:876-82
   PubMed Web of Science ®Google Scholar
• Kolouchova G, Brcakova E, Hirsova P, et al. Pravastatin modulates liver bile acid and cholesterol homeostasis in rats with chronic cholestasis. J Gastroenterol Hepatol 2011;26:1544-51
   PubMed Web of Science ®Google Scholar
• Pedersen JM, Matsson P, Bergström CAS, et al. Early identification of clinically relevant drug interactions with the human bile salt export pump (BSEP/ABCB11). Toxicol Sci 2013;136:328-43
   PubMed Web of Science ®Google Scholar
• Zucchetti AE, Barosso IR, Boaglio A, et al. Prevention of estradiol 17beta-D-glucuronide-induced canalicular transporter internalization by hormonal modulation of cAMP in rat hepatocytes. Mol Biol Cell 2011;22:3902-15
   PubMed Web of Science ®Google Scholar
• Strautnieks SS, Bull LN, Knisely AS, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233-8
   PubMed Web of Science ®Google Scholar
• Chen H-L, Liu Y-J, Su Y-N, et al. Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. J Pediatr 2008;153:825-32
   PubMed Web of Science ®Google Scholar
• Liu L-Y, Wang X-H, Lu Y, et al. Association of variants of ABCB11 with transient neonatal cholestasis. Pediatr Int 2013;55:138-44
   PubMed Web of Science ®Google Scholar
• Lang C, Meier Y, Stieger B, et al. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics 2007;17:47-60
   PubMed Web of Science ®Google Scholar
• Dixon PH, van Mil SWC, Chambers J, et al. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut 2009;58:537-44
   PubMed Web of Science ®Google Scholar
• Meier Y, Pauli-Magnus C, Zanger UM, et al. Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver. Hepatology 2006;44:62-74
   PubMed Web of Science ®Google Scholar
• Van Mil SWC, Milona A, Dixon PH, et al. Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy. Gastroenterology 2007;133:507-16
   PubMed Web of Science ®Google Scholar
• Wadsworth CA, Dixon PH, Wong JH, et al. Genetic factors in the pathogenesis of cholangiocarcinoma. Dig Dis 2011;29:93-7
   PubMed Web of Science ®Google Scholar
• Iwata R, Stieger B, Mertens JC, et al. The role of bile acid retention and a common polymorphism in the ABCB11 gene as host factors affecting antiviral treatment response in chronic hepatitis C. J Viral Hepat 2011;18:768-78
   PubMed Web of Science ®Google Scholar
• Iwata R, Baur K, Stieger B, et al. A common polymorphism in the ABCB11 gene is associated with advanced fibrosis in hepatitis C but not in non-alcoholic fatty liver disease. Clin Sci 2011;120:287-96
   PubMed Web of Science ®Google Scholar
• Kubitz R, Keitel V, Scheuring S, et al. Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. J Clin Gastroenterol 2006;40:171-5
   PubMed Web of Science ®Google Scholar
• Keitel V, Vogt C, Häussinger D, Kubitz R. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 2006;131:624-9
   PubMed Web of Science ®Google Scholar
• Zimmer V, Müllenbach R, Simon E, et al. Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. Liver Int 2009;29:1286-8
   PubMed Web of Science ®Google Scholar
• Zimmer V, Krawczyk M, Mahler M, et al. Severe hepatocellular dysfunction in obstetric cholestasis related to combined genetic variation in hepatobiliary transporters. Clin Exp Obstet Gynecol 2012;39:32-5
   PubMed Web of Science ®Google Scholar
• Van Helvoort A, Smith AJ, Sprong H, et al. MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine. Cell 1996;87:507-17
   PubMed Web of Science ®Google Scholar
• Smith AJ, van Helvoort A, van Meer G, et al. MDR3 P-glycoprotein, a phosphatidylcholine translocase, transports several cytotoxic drugs and directly interacts with drugs as judged by interference with nucleotide trapping. J Biol Chem 2000;275:23530-9
   PubMed Web of Science ®Google Scholar
• Yoshikado T, Takada T, Yamamoto T, et al. Itraconazole-induced cholestasis: involvement of the inhibition of bile canalicular phospholipid translocator MDR3/ABCB4. Mol Pharmacol 2011;79:241-50
   PubMed Web of Science ®Google Scholar
• Yoshikado T, Takada T, Yamamoto H, et al. Ticlopidine, a cholestatic liver injury-inducible drug, causes dysfunction of bile formation via diminished biliary secretion of phospholipids: involvement of biliary-excreted glutathione-conjugated ticlopidine metabolites. Mol Pharmacol 2013;83:552-62
   PubMed Web of Science ®Google Scholar
• Hirschfield GM, Chapman RW, Karlsen TH, et al. The genetics of complex cholestatic disorders. Gastroenterology 2013;144:1357-74
   PubMed Web of Science ®Google Scholar
• Baghdasaryan A, Claudel T, Gumhold J, et al. Dual farnesoid X receptor/TGR5 agonist INT-767 reduces liver injury in the Mdr2-/- (Abcb4-/-) mouse cholangiopathy model by promoting biliary HCO-3 output. Hepatology 2011;54:1303-12
   PubMed Web of Science ®Google Scholar
• Fickert P, Wagner M, Marschall H-U, et al. 24-norUrsodeoxycholic acid is superior to ursodeoxycholic acid in the treatment of sclerosing cholangitis in Mdr2 (Abcb4) knockout mice. Gastroenterology 2006;130:465-81
   PubMed Web of Science ®Google Scholar
• Jacquemin E, Cresteil D, Manouvrier S, et al. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 1999;353:210-11
   PubMed Web of Science ®Google Scholar
• Müllenbach R, Linton KJ, Wiltshire S, et al. ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy. J Med Genet 2003;40:e70
   PubMed Web of Science ®Google Scholar
• Gendrot C, Bacq Y, Brechot M-C, et al. A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet 2003;40:e32
   PubMedGoogle Scholar
• Savander M, Ropponen A, Avela K, et al. Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. Gut 2003;52:1025-9
   PubMed Web of Science ®Google Scholar
• Schneider G, Paus TC, Kullak-Ublick GA, et al. Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. Hepatology 2007;45:150-8
   PubMed Web of Science ®Google Scholar
• Dixon PH, Wadsworth CA, Chambers J, et al. A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy. Am J Gastroenterol 2014;109:76-84
   PubMed Web of Science ®Google Scholar
• Wasmuth HE, Glantz A, Keppeler H, et al. Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene. Gut 2007;56:265-70
   PubMed Web of Science ®Google Scholar
• Krawczyk M, Grünhage F, Langhirt M, et al. Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters. Ann Hepatol 2012;11:710-14
   PubMed Web of Science ®Google Scholar
• Rosmorduc O, Hermelin B, Boelle P-Y, et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003;125:452-9
   PubMed Web of Science ®Google Scholar
• Kim TH, Park HJ, Choi JH. Functional characterization of ABCB4 mutations found in low phospholipid-associated cholelithiasis (LPAC). Korean J Physiol Pharmacol 2013;17:525-30
   PubMed Web of Science ®Google Scholar
• Erlinger S. Low phospholipid-associated cholestasis and cholelithiasis. Clin Res Hepatol Gastroenterol 2012;36(Suppl 1):S36-40
   Google Scholar
• Tomaiuolo R, Degiorgio D, Coviello DA, et al. An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. Dig Liver Dis 2009;41:817-22
   PubMedGoogle Scholar
• Chen X-Q, Wang L-L, Shan Q-W, et al. Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis. World J Gastroenterol 2009;15:5855-8
   PubMed Web of Science ®Google Scholar
• Lang T, Haberl M, Jung D, et al. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 2006;34:1582-99
   PubMed Web of Science ®Google Scholar
• Groen A, Romero MR, Kunne C, et al. Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity. Gastroenterology 2011;141:1927-37. e1-4
   PubMed Web of Science ®Google Scholar
• Verhulst PM, van der Velden LM, Oorschot V, et al. A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells. Hepatology 2010;51:2049-60
   PubMed Web of Science ®Google Scholar
• El Sherrif Y, Potts JR, Howard MR, et al. Hepatotoxicity from anabolic androgenic steroids marketed as dietary supplements: contribution from ATP8B1/ABCB11 mutations? Liver Int 2013;33:1266-70
   PubMed Web of Science ®Google Scholar
• Painter JN, Savander M, Ropponen A, et al. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet 2005;13:435-9
   PubMed Web of Science ®Google Scholar
• Hsu Y-C, Chen H-L, Wu M-Z, et al. Adult progressive intrahepatic cholestasis associated with genetic variations in ATP8B1 and ABCB11. Hepatol Res 2009;39:625-31
   PubMed Web of Science ®Google Scholar
• Back SS, Kim J, Choi D, et al. Cooperative transcriptional activation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 genes by nuclear receptors including Liver-X-Receptor. BMB Rep 2013;46:322-7
   PubMed Web of Science ®Google Scholar
• Freeman LA, Kennedy A, Wu J, et al. The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter. J Lipid Res 2004;45:1197-206
   PubMed Web of Science ®Google Scholar
• McDaniel AL, Alger HM, Sawyer JK, et al. Phytosterol feeding causes toxicity in ABCG5/G8 knockout mice. Am J Pathol 2013;182:1131-8
   PubMed Web of Science ®Google Scholar
• Wei K-K, Zhang L-R, Zhang Y, Hu X-J. Interactions between CYP7A1 A-204C and ABCG8 C1199A polymorphisms on lipid lowering with atorvastatin. J Clin Pharm Ther 2011;36:725-33
   PubMed Web of Science ®Google Scholar
• Jiang Z-Y, Cai Q, Chen E-Z. Association of three common single nucleotide polymorphisms of ATP binding cassette G8 gene with gallstone disease: a meta-analysis. PLoS One 2014;9:e87200
   Google Scholar
• Buch S, Schafmayer C, Völzke H, et al. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet 2007;39:995-9
   PubMed Web of Science ®Google Scholar
• Von Kampen O, Buch S, Nothnagel M, et al. Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus. Hepatology 2013;57:2407-17
   PubMed Web of Science ®Google Scholar
• Buch S, Schafmayer C, Völzke H, et al. Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition. Gastroenterology 2010;139:1942-1951.e2
   PubMed Web of Science ®Google Scholar
• Jung D, Mangelsdorf DJ, Meyer UA. Pregnane X receptor is a target of farnesoid X receptor. J Biol Chem 2006;281:19081-91
   PubMed Web of Science ®Google Scholar
• Chen F, Ananthanarayanan M, Emre S, et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 2004;126:756-64
   PubMed Web of Science ®Google Scholar
• Alvarez L, Jara P, Sánchez-Sabaté E, et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004;13:2451-60
   PubMed Web of Science ®Google Scholar
• Davit-Spraul A, Gonzales E, Jacquemin E. NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations. Clin Res Hepatol Gastroenterol 2012;36:569-73
   Google Scholar
• Zhou H, Hylemon PB. Bile acids are nutrient signaling hormones. Steroids 2014;86C:62-8
   Google Scholar
• Ma K, Saha PK, Chan L, Moore DD. Farnesoid X receptor is essential for normal glucose homeostasis. J Clin Invest 2006;116:1102-9
   PubMed Web of Science ®Google Scholar
• Heni M, Wagner R, Ketterer C, et al. Genetic variation in NR1H4 encoding the bile acid receptor FXR determines fasting glucose and free fatty acid levels in humans. J Clin Endocrinol Metab 2013;98:E1224-9
   Google Scholar
• Van den Berg SW, Dollé MET, Imholz S, et al. Genetic variations in regulatory pathways of fatty acid and glucose metabolism are associated with obesity phenotypes: a population-based cohort study. Int J Obes (Lond) 2009;33:1143-52
   PubMed Web of Science ®Google Scholar
• Cipriani S, Mencarelli A, Palladino G, Fiorucci S. FXR activation reverses insulin resistance and lipid abnormalities and protects against liver steatosis in Zucker (fa/fa) obese rats. J Lipid Res 2010;51:771-84
   PubMed Web of Science ®Google Scholar
• Kovacs P, Kress R, Rocha J, et al. Variation of the gene encoding the nuclear bile salt receptor FXR and gallstone susceptibility in mice and humans. J Hepatol 2008;48:116-24
   PubMed Web of Science ®Google Scholar
• Marzolini C, Tirona RG, Gervasini G, et al. A common polymorphism in the bile acid receptor farnesoid X receptor is associated with decreased hepatic target gene expression. Mol Endocrinol 2007;21:1769-80
   PubMed Web of Science ®Google Scholar
• Hu M, Lui SSH, Tam L-S, et al. The farnesoid X receptor -1G>T polymorphism influences the lipid response to rosuvastatin. J Lipid Res 2012;53:1384-9
   PubMed Web of Science ®Google Scholar
• Chen X-Q, Wang L-L, Shan Q-W, et al. A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis. World J Pediatr 2012;8:67-71
   PubMed Web of Science ®Google Scholar
• Aleksunes LM, Klaassen CD. Coordinated regulation of hepatic phase I and II drug-metabolizing genes and transporters using AhR-, CAR-, PXR-, PPARalpha-, and Nrf2-null mice. Drug Metab Dispos 2012;40:1366-79
   PubMed Web of Science ®Google Scholar
• Staudinger JL, Woody S, Sun M, Cui W. Nuclear-receptor-mediated regulation of drug- and bile-acid-transporter proteins in gut and liver. Drug Metab Rev 2013;45:48-59
   PubMed Web of Science ®Google Scholar
• Sookoian S, Castaño GO, Burgueño AL, et al. The nuclear receptor PXR gene variants are associated with liver injury in nonalcoholic fatty liver disease. Pharmacogenet Genomics 2010;20:1-8
   PubMed Web of Science ®Google Scholar
• Xu S, Weerachayaphorn J, Cai S-Y, et al. Aryl hydrocarbon receptor and NF-E2-related factor 2 are key regulators of human MRP4 expression. Am J Physiol Gastrointest Liver Physiol 2010;299:G126-35
   PubMed Web of Science ®Google Scholar
• Stieger B, Geier A. Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis. Expert Opin Drug Metab Toxicol 2011;7:411-25
   PubMed Web of Science ®Google Scholar
• Chambers JC, Zhang W, Sehmi J, et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 2011;43:1131-8
   PubMed Web of Science ®Google Scholar
• Leslie EM, Watkins PB, Kim RB, Brouwer KLR. Differential inhibition of rat and human Na+-dependent taurocholate cotransporting polypeptide (NTCP/SLC10A1) by bosentan: a mechanism for species differences in hepatotoxicity. J Pharmacol Exp Ther 2007;321:1170-8
   PubMed Web of Science ®Google Scholar
• Kis E, Ioja E, Nagy T, et al. Effect of membrane cholesterol on BSEP/Bsep activity: species specificity studies for substrates and inhibitors. Drug Metab Dispos 2009;37:1878-86
   PubMed Web of Science ®Google Scholar
• Keitel V, Häussinger D. TGR5 in cholangiocytes. Curr Opin Gastroenterol 2013;29:299-304
   PubMed Web of Science ®Google Scholar
• Hov JR, Keitel V, Laerdahl JK, et al. Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. PLoS One 2010;5:e12403
   PubMed Web of Science ®Google Scholar
• Hov JR, Keitel V, Schrumpf E, et al. TGR5 sequence variation in primary sclerosing cholangitis. Dig Dis 2011;29:78-84
   PubMed Web of Science ®Google Scholar
• Mells JE, Anania FA. The role of gastrointestinal hormones in hepatic lipid metabolism. Semin Liver Dis 2013;33:343-57
   PubMed Web of Science ®Google Scholar
• Fickert P, Pollheimer MJ, Beuers U, et al. Characterization of animal models for primary sclerosing cholangitis (PSC). J Hepatol 2014;60:1290-303
   PubMed Web of Science ®Google Scholar
• Stieger B. The role of the sodium-taurocholate cotransporting polypeptide (NTCP) and of the bile salt export pump (BSEP) in physiology and pathophysiology of bile formation. Handb Exp Pharmacol 2011(201):205-59
   PubMedGoogle Scholar
• Yanni SB, Augustijns PF, Benjamin DK, et al. In vitro investigation of the hepatobiliary disposition mechanisms of the antifungal agent micafungin in humans and rats. Drug Metab Dispos 2010;38:1848-56
   PubMed Web of Science ®Google Scholar
• Herraez E, Lozano E, Macias RIR, et al. Expression of SLC22A1 variants may affect the response of hepatocellular carcinoma and cholangiocarcinoma to sorafenib. Hepatology 2013;58:1065-73
   PubMed Web of Science ®Google Scholar
• Christensen MMH, Brasch-Andersen C, Green H, et al. The pharmacogenetics of metformin and its impact on plasma metformin steady-state levels and glycosylated hemoglobin A1c. Pharmacogenet Genomics 2011;21:837-50
   PubMed Web of Science ®Google Scholar
• Borst P, de Wolf C, van de Wetering K. Multidrug resistance-associated proteins 3, 4, and 5. Pflugers Arch 2007;453:661-73
   PubMed Web of Science ®Google Scholar
• Sharom FJ. The P-glycoprotein multidrug transporter. Essays Biochem 2011;50:161-78
   PubMed Web of Science ®Google Scholar
• Krishnamurthy P, Schuetz JD. Role of ABCG2/BCRP in biology and medicine. Annu Rev Pharmacol Toxicol 2006;46:381-410
   PubMed Web of Science ®Google Scholar
• Hagenbuch B, Stieger B. The SLCO (former SLC21) superfamily of transporters. Mol Aspects Med 2013;34:396-412
   PubMed Web of Science ®Google Scholar
• Bull LN, van Eijk MJ, Pawlikowska L, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-24
   PubMed Web of Science ®Google Scholar
• Klomp LW, Bull LN, Knisely AS, et al. A missense mutation in FIC1 is associated with Greenland familial cholestasis. Hepatology 2000;32:1337-41
   PubMed Web of Science ®Google Scholar
• Klomp LWJ, Vargas JC, van Mil SWC, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004;40:27-38
   PubMed Web of Science ®Google Scholar
• Tygstrup N, Steig BA, Juijn JA, et al. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology 1999;29:506-8
   PubMed Web of Science ®Google Scholar
• Kubitz R, Dröge C, Stindt J, et al. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol 2012;36:536-53
   PubMed Web of Science ®Google Scholar
• Jansen PL, Strautnieks SS, Jacquemin E, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999;117:1370-9
   PubMed Web of Science ®Google Scholar
• Lam C-W, Cheung K-M, Tsui M-S, et al. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. J Hepatol 2006;44:240-2
   PubMed Web of Science ®Google Scholar
• Takahashi A, Hasegawa M, Sumazaki R, et al. Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Eur J Gastroenterol Hepatol 2007;19:942-6
   PubMed Web of Science ®Google Scholar
• Wang L, Soroka CJ, Boyer JL. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002;110:965-72
   PubMed Web of Science ®Google Scholar
• Van Mil SWC, van der Woerd WL, van der Brugge G, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004;127:379-84
   PubMed Web of Science ®Google Scholar
• De Vree JM, Jacquemin E, Sturm E, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 1998;95:282-7
   PubMed Web of Science ®Google Scholar
• Degiorgio D, Colombo C, Seia M, et al. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 2007;15:1230-8
   PubMed Web of Science ®Google Scholar
• Gotthardt D, Runz H, Keitel V, et al. A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Hepatology 2008;48:1157-66
   PubMed Web of Science ®Google Scholar
• Degiorgio D, Corsetto PA, Rizzo AM, et al. Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction. Eur J Hum Genet 2014;22:633-9
   PubMed Web of Science ®Google Scholar
• Ziol M, Barbu V, Rosmorduc O, et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008;135:131-41
   PubMed Web of Science ®Google Scholar
• Dixon PH, Weerasekera N, Linton KJ, et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 2000;9:1209-17
   PubMed Web of Science ®Google Scholar
• Floreani A, Carderi I, Paternoster D, et al. Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations. Aliment Pharmacol Ther 2006;23:1649-53
   PubMed Web of Science ®Google Scholar
• Floreani A, Carderi I, Paternoster D, et al. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Dig Liver Dis 2008;40:366-70
   PubMedGoogle Scholar
• Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001;120:1459-67
   PubMed Web of Science ®Google Scholar
• Schwab M, Schaeffeler E, Marx C, et al. Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis. Gastroenterology 2003;124:26-33
   PubMed Web of Science ®Google Scholar
• Wang J, Guo X, Yu S, et al. MDR1 C3435T polymorphism and inflammatory bowel disease risk: a meta-analysis. Mol Biol Rep 2014;41:2679-85
   PubMed Web of Science ®Google Scholar
• Paulusma CC, Kool M, Bosma PJ, et al. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology 1997;25:1539-42
   PubMed Web of Science ®Google Scholar
• Cusatis G, Sparreboom A. Pharmacogenomic importance of ABCG2. Pharmacogenomics 2008;9:1005-9
   PubMed Web of Science ®Google Scholar
• Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000;290:1771-5
   PubMed Web of Science ®Google Scholar
• Lee MH, Lu K, Hazard S, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet 2001;27:79-83
   PubMed Web of Science ®Google Scholar
• Lam C-W, Cheng AW-F, Tong S-F, Chan Y-W. Novel donor splice site mutation of ABCG5 gene in sitosterolemia. Mol Genet Metab 2002;75:178-80
   PubMed Web of Science ®Google Scholar
• Heimerl S, Langmann T, Moehle C, et al. Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. Hum Mutat 2002;20:151
   PubMedGoogle Scholar