PharmGKB summary: Very important pharmacogene information for SLC22A1

Pharmacogenetics and Genomics

Volumn 24, Issue 6, 2014, Pages 324-328

  Goswami, Srijib ^a   Gong, Li ^b   Giacomini, Kathleen ^a   Altman, Russ B ^b,c   Klein, Teri E ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b STANFORD UNIVERSITY   (United States)

^c STANFORD UNIVERSITY   (United States)

Author keywords

drug transport; OCT1; pharmacogenetics; pharmacogenomics; SLC22A1

Indexed keywords

ANTIEMETIC AGENT; IMATINIB; METFORMIN; MORPHINE; ONDANSETRON; SORAFENIB; TRAMADOL; TROPISETRON; ORGANIC CATION TRANSPORTER 1;

ALLELE; ARTICLE; CHRONIC MYELOID LEUKEMIA; DRUG CLEARANCE; DRUG DISPOSITION; DRUG DISTRIBUTION; DRUG RESPONSE; GENE; GENE EXPRESSION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; LIVER CELL CARCINOMA; NON INSULIN DEPENDENT DIABETES MELLITUS; ORGANIC CATIONIC TRANSPORTER 1 GENE; OVARY POLYCYSTIC DISEASE; PHARMACOGENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; METABOLISM;

HUMANS; ORGANIC CATION TRANSPORTER 1; PHARMACOGENETICS;

EID: 84900470887     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0000000000000048     Document Type: Article

References (40)

1. Hayer M, Bonisch H, Bruss M. Molecular cloning, functional characterizationand genomic organization of four alternatively spliced isoforms of the humanorganic cation transporter 1 (hOCT1/SLC22A1). Ann Hum Genet 1999 63(Pt 6):473-482.
2. Koepsell H. The SLC22 family with transporters of organic cations, anionsand zwitterions. Mol Aspects Med 2013 4:413-435.
3. Shu Y, Leabman MK, Feng B, Mangravite LM. Evolutionary conservationpredicts function of variants of the human organic cation transporter, OCT1.Proc Natl Acad Sci USA 2003 100:5902-5907.
4. Tzvetkov MV, Saadatmand AR, Lötsch J, Tegeder I, Stingl JC, Brockmöller J.Genetically polymorphic OCT1: another piece in the puzzle of the variablepharmacokinetics and pharmacodynamics of the opioidergic drug tramadol.Clin Pharmacol Ther 2009 90:143-150.
5. Saborowski M. Human OCT1 gene is transactivated by HNF4A.J Pharmacol Exp Ther 2006 317:778-785.
6. Jonker JW, Schinkel AH. Pharmacological and physiological functions of thepolyspecific organic cation transporters: OCT1, 2, and 3 (SLC22A1-3).J Pharmacol Exp Ther 2004 308:2-9.
7. Giannoudis A,Wang L, Jorgensen AL, Xinarianos A, Davies S, Pushpakom T,et al. The hOCT1 SNPs M420del and M408V alter imatinib uptake andM420del modifies clinical outcome in imatinib-treated chronic myeloidleukemia. Blood 2013 121:628-663.
8. Hendrickx R, Johansson JG, Lohmann C, Jenvert R-M, Blomgren A,Bö rjesson L, Gustavsson L, et al. Identification of novel substrates andstructure-activity relationship of cellular uptake mediated by human organiccation transporters 1 and 2. J Med Chem 2013 56:7232-7242.
9. Hilgendorf C, Ahlin G, Seithel A, Artursson P, Ungell A-L, Karlsson J.Expression of thirty-six drug transporter genes in human intestine, liver,kidney, and organotypic cell lines. Drug Metab Dispos 2007 35:1333-1340.
10. Koepsell H, Lips K, Volk C. Polyspecific organic cation transporters:structure, function, physiological roles, and biopharmaceutical implications.Pharm Res 2007 24:1227-1251.
11. O'Brien VP, Bokelmann K, Ramirez J, Jobst K, Ratain MJ, Brockmoller J,Tzvetkov MV, et al. Hepatocyte nuclear factor 1 regulates the expression ofthe organic cation transporter 1 via binding to an evolutionary conservedregion in intron 1 of the OCT1 gene. J Pharmacol Exp Ther 2013 347:181-192.
12. Kajiwara M, Terada T, Asaka JI, Aoki M, Katsura T, Ikai I, Inui K. Regulation ofbasal core promoter activity of human organic cation transporter 1(OCT1/SLC22A1). Am J Physiol Gastrointest Liver Physiol 2008295:G1211-G1216.
13. Nie W, Sweetser S, Rinella M, Green R. Transcriptional regulation of murineSlc22a1 (Oct1) by peroxisome proliferator agonist receptor-alpha and-gamma. Am J Physiol Gastrointest Liver Physiol 2005 288:G207-G212.
14. Cho SK, Yoon JS, Lee MG, Lee DH, Lim LA, Park K, et al. Rifampin enhancesthe glucose-lowering effect of metformin and increases OCT1 mRNA levelsin healthy participants. Clin Pharmacol Ther 2009 89:416-421.
15. Schaeffeler E, Hellerbrand C, Nies AT,Winter S, Kruck S, Hofmann U, et al.DNA methylation is associated with downregulation of the organic cationtransporter OCT1 (SLC22A1) in human hepatocellular carcinoma. GenomeMed 2011 3:82.
16. Nies AT, Hofmann U, Resch C, Schaeffeler E, Rius M, Schwab M. Protonpump inhibitors inhibit metformin uptake by organic cation transporters(OCTs). PLoS One 2011 6:e22163.
17. Choi M-K, Jin Q-R, Ahn S-H, Bae M-A, Song I-S. Sitagliptin attenuatesmetformin-mediated AMPK phosphorylation through inhibition of organiccation transporters. Xenobiotica 2010 40:817-825.
18. Ahlin G, Chen L, Lazorova L, Chen Y, Ianculescu AG, Davis RL, et al.Genotype-dependent effects of inhibitors of the organic cation transporter,OCT1: predictions of metformin interactions. Pharmacogenomics J 201011:400-411.
19. Shu Y, Brown C, Castro R, Shi RJ, Lin ET, Owen RP, et al. Effect of geneticvariation in the organic cation transporter 1, OCT1, on metforminpharmacokinetics. Clin Pharmacol Ther 2007 83:273-280.
20. Tzvetkov MV, Vormfelde SV, Balen D, Meineke I, Schmidt T, Sehrt D, et al.The effects of genetic polymorphisms in the organic cation transportersOCT1, OCT2, and OCT3 on the renal clearance of metformin. ClinPharmacol Ther 2009 86:299-306.
21. Gambineri A, Tomassoni F, Gasparini DI, et al. Organic cation transporter 1polymorphisms predict the metabolic response to metformin in women withthe polycystic ovary syndrome. J Clin Endocrinol Metab 2010 95:E204-E208.
22. Tzvetkov MV, Saadatmand AR, Bokelmann K, Meineke I, Kaiser R, ller JBO.Effects of OCT1 polymorphisms on the cellular uptake, plasmaconcentrations and efficacy of the 5-HT. Pharmacogenomics J 201012:22-29.
23. Tzvetkov MV, Santos Pereira dos JN, Meineke I, Saadatmand AR, Stingl JC,Brockmö ller J. Morphine is a substrate of the organic cation transporterOCT1 and polymorphisms in OCT1 gene affect morphine pharmacokineticsafter codeine administration. Biochem Pharmacol 2013 86:666-678.
24. Fukuda T, Chidambaran V, Mizuno T, Venkatasubramanian R,Ngamprasertwong P, Olbrecht V, et al. OCT1 genetic variants influence thepharmacokinetics of morphine in children. Pharmacogenomics 201314:1141-1151.
25. Christensen MMH, Brasch-Andersen C, Green H, Nielsen F, Damkier P,Beck-Nielsen H, Brosen K. The pharmacogenetics of metformin and itsimpact on plasma metformin steady-state levels and glycosylatedhemoglobin A1c. Pharmacogenet Genomics 2011 21:837-850.
26. Tarasova L, Kalnina I, Geldnere K, Bumbure A, Ritenberga R, Nikitina-Zake L,et al. Association of genetic variation in the organic cation transportersOCT1, OCT2 and multidrug and toxin extrusion 1 transporter protein geneswith the gastrointestinal side effects and lower BMI in metformin-treatedtype 2 diabetes patients. Pharmacogenet Genomics 2012 22:659-666.
27. Kerb R, Brinkmann U, Chatskaiab N. Identification of genetic variations ofthe human organic cation transporter hOCT1 and their functionalconsequences. Pharmacogenetics 2002 12:591-595.
28. Becker ML, Visser LE, van Schaik RHN, Hofman A, Uitterlinden AG, StrickerBH. Genetic variation in the organic cation transporter 1 is associated withmetformin response in patients with diabetes mellitus. Pharmacogenomics J2009 9:242-247.
29. Becker ML, Visser LE, Schaik RHN, Hofman A, Uitterlinden AG, Stricker BH.OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users. Neurogenetics 2011 12:79-82.
30. Ohishi Y, Nakamuta M, Ishikawa N, Saitoh O, Nakamura H, Aiba Y, et al.Genetic polymorphisms of OCT-1 confer susceptibility to severeprogression of primary biliary cirrhosis in Japanese patients. J Gastroenterol2014 49:332-342.
31. Kim DH, Sriharsha L, Xu W, Kamel-Reid S, Liu X, Siminovitch K, et al.Clinical relevance of a pharmacogenetic approach using multiple candidategenes to predict response and resistance to imatinib therapy in chronicmyeloid leukemia. Clin Cancer Res 2009 15:4750-4758.
32. Schumacher FR, Berndt SI, Siddiq A, Jacobs KB, Wang Z, Lindstrom S,et al. Genome-wide association study identifies new prostate cancersusceptibility loci. Hum Mol Genet 2011 20:3867-3875.
33. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, KosekiM, et al. Biological, clinical and population relevance of 95 loci for bloodlipids. Nature 2010 466:707-713.
34. Shu Y, Sheardown SA, Brown C, Owen RP, Zhang S, Castro RA, et al.Effect of genetic variation in the organic cation transporter 1 (OCT1). J ClinInvest 2007 117:1422-1431.
35. Becker ML, Visser LE, van Schaik RHN, Hofman A, Uitterlinden AG, StrickerBH. Interaction between polymorphisms in the OCT1 and MATE1transporter and metformin response. Pharmacogenet Genomics 201020:38-44.
36. Clark RE, Davies A, Pirmohamed M, Giannoudis A. Pharmacologic markersand predictors of responses to imatinib therapy in patients with chronicmyeloid leukemia. Leuk Lymphoma 2008 49:639-642.
37. Nies AT, Schaeffeler E, van der Kuip H, Cascorbi I, Bruhn O, Kneba M, et al.Cellular uptake of imatinib into leukemic cells is independent of humanorganic cation transporter 1 (OCT1). Clin Cancer Res 2014 20:985-994.
38. Swift B, Nebot N, Lee JK, Han T, Proctor WR, Thakker DR, et al. Sorafenibhepatobiliary disposition: mechanisms of hepatic uptake and disposition ofgenerated metabolites. Drug Metab Dispos 2013 41:1179-1186.
39. Hu S, Chen Z, Franke R, Orwick S, Zhao M, Rudek MA, et al. Interaction ofthe multikinase inhibitors sorafenib and sunitinib with solute carriers andATP-binding cassette transporters. Clin Cancer Res 2009 15:6062-6069.
40. Herraez E, Lozano E, Macias RIR, Vaquero J, Bujanda L, Banales JM, et al.Expression of SLC22A1 variants may affect the response of hepatocellularcarcinoma and cholangiocarcinoma to sorafenib. Hepatology 201358:1065-1073.