A linkage and association analysis study in the multidrug resistance gene 1 (MDR1) in renal patients

International Journal of Molecular Epidemiology and Genetics

Volumn 3, Issue 4, 2012, Pages 314-320

  Bazrafshani, Mohammad R ^a,b   Poulton, Kay V ^a   Mahmoodi, Merat ^b  

^a MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^b KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Gene; Haplotype; Immunosuppressive; Linkage disequilibrium; MDR; Single nucleotide polymorphism

Indexed keywords

CALCINEURIN INHIBITOR; MULTIDRUG RESISTANCE PROTEIN 1;

ADULT; ALLELE; ARTICLE; CAUCASIAN; DRUG BIOAVAILABILITY; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE PRODUCT; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOTE; HUMAN; KIDNEY ALLOGRAFT; MAJOR CLINICAL STUDY; MDR1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84869768887     PISSN: None     EISSN: 19481756     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Ambudkar SV, Kimchi-Sarfaty C, Sauna ZE, Gottesman MM. P-glycoprotein: from genomics to mechanism. Oncogene 2003; 22: 7468-7485.
2. Fung KL, Gottesman MM. A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function. Biochim Biophys Acta 2009; 1794: 860-871.
3. Gottesman MM, Hrycyna CA, Schoenlein PV, Germann UA, Pastan I. Genetic analysis of the multidrug transporter. Annu Rev Genet 1995; 29: 607-649.
4. Kimchi-Sarfaty C, Marple AH, Shinar S, Kimchi AM, Scavo D, Roma MI, Kim IW, Jones A, Arora M, Gribar J, Gurwitz D, Gottesman MM. Ethnicity-Related Polymorphisms and Haplotypes in the Human ABCB1 Gene. Pharmacogenomics 2007; 8: 29-39.
5. Fung KL, Gottesman MM. A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function. Biochimica Biophysica Acta 2009; 1794: 860-871.
6. Lum BL, Gosland MP. MDR expression in normal tissues: pharmacological implications for the clinical use of the P-glycoprotein inhibitors. Hematol Oncol Clin. North Am 1995; 9: 319-336.
7. Fardel O, Lecureur V, Corlu A, Guillouzo A. P-glycoprotein induction in rat liver epithelial cells in response to acute 3-methylcholanthrene treatment. Biochem Pharmacol 1996; 51: 1427-36.
8. Lampen A, Ebert B, Stumkat L, Jacob J, Seidel A. Induction of gene expression of xenobiotic metabolism enzymes and ABC-transport proteins by PAH and a reconstituted PAH mixture in human Caco-2 cells. Biochim Biophys Acta 2004; 1681: 38-46.
9. Nakamura Y, Ikeda S, Furukawa T, Sumizawa T, Tani A, Akiyama S and Nagata Y. Function of P-glycoprotein expressesd in placenta and mole. Biochem Biophys Res Commun 1997; 235: 849-853.
10. Schinkel AH, Wagenaar E, Mol CA, van Deemter L. P-glycoprotein in blood-brain barrier of mice influences the brain penetration and pharmacological activity of many drugs. J Clin Invest 1996; 97: 2517-2524.
11. Schinkel AH, Mayer U, Wagenaar E, Mol CA, van Deemter L, Smit JJ, van der Valk MA, Voordouw AC, Spits H, van Tellingen O, Zijlmans JM, Fibbe WE and Borst P. Normal viability and altered pharmacokinetics in mice lacking mdr1-type (drug-transporting) P-glycoprotein. Proc Natl Acad Sci USA 1997; 94: 4028-4033.
12. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmoller J, Johne A, Cascorbi I, Gerloff T, Roots I, Eichelbaum M and Brinkmann U. Functional polymorphisms of the human multidrugresistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci USA 2000; 97: 3473-3478.
13. Kroetz DL, Pauli-Magnus C, Hodges LM, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, DeYoung J, Taylor T, Carlson EJ, Herskowitz I, Giacomini KM and Clark AG. Sequence diversity and haplotype structure in the human ABCB1 (MDR1 multidrug resistance transporter) gene. Pharmacogenetics 2003; 13: 481-494.
14. Leschziner G, Zabaneh D, Pirmohamed M, Owen A, Rogers J, Coffey AJ, Balding DJ, Bentley DB, and Johnson MR. Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance. Pharmacogenet Genomics 2006; 16: 439-450.
15. Fung KL, Gottesman MM. A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function. Biochim Biophys Acta 2009; 1794: 860-871.
16. Marzolini C, Paus E, Buclin T, Kim RB. Polymorphisms in human MDR1 (Pglycoprotein): recent advances and clinical relevance. Clin Pharmacol Ther 2004; 75: 13-33.
17. Ozawa S, Soyama A, Saeki M, Fukushima-Uesaka H, Itoda M, Koyano S, Sai K, Ohno Y, Saito Y and Sawada J. Ethnic differences in genetic polymorphisms of CYP2D6, CYP2C19, CYP3As and MDR1/ABCB1. Drug Metab Pharmacokinet 2004; 19: 83-95.
18. Tang K, Ngoi SM, Gwee PC, Chua JM, Lee EJ, Chong SS and Lee CG. Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics 2002; 12: 437-450.
19. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV and Gottesman MM. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 2007; 315: 525-528.
20. Ieiri I, Takane H and Otsubo K. The MDR1(ABCB1) gene polymorphism and its clinical implications. Clin Pharmacokinet 2004; 43: 553-576.
21. Schwab M, Eichelbaum M, Fromm MF. Genetic polymorphisms of the human MDR1 drug transporter. Annu Rev Pharmacol Toxicol 2003; 43: 285-307.
22. Kurata Y, Ieiri I, Kimura M, Morita T, Irie S, Urae A, Ohdo S, Ohtani H, Sawada Y, Higuchi S and Otsubo K. Role of human MDR1 gene polymorphism in bioavailability and interaction of digoxin, a substrate of P-glycoprotein. Clin Pharmacol Ther 2002; 72: 209-219.
23. Jiang ZP, Wang YR, Xu P, Liu RR, Zhao XL and Chen FP. Meta-analysis of the effect of MDR1 C3435T polymorphism on cyclosporine pharmacokinetics. Basic Clin Pharmacol Toxicol 2008; 103: 433-444.
24. Ieiri I. Functional significance of genetic polymorphisms in P-glycoprotein (MDR1, ABCB1) and breast cancer resistance protein (BCRP, ABCG2). Drug Metab Pharmacokinet 2012; 27: 85-105. Epub 2011 Nov 29.
25. Rüstemoglu A, Gumus-Akay G, Yigit S, Tasliyurt T. Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turk ish patients with Familial Mediterranean Fever. Genet Mol Res 2011 Dec 14; 10: 3411-20.
26. Staatz CE, Goodman LK, Tett SE. Effect of CY-P3A and ABCB1 Single Nucleotide Polymorphisms on the Pharmacokinetics and Pharmacodynamics of Calcineurin Inhibitors: Part I. Clin Pharmacokinet 2010; 49: 141-175.
27. Goh LB, Spears KJ, Yao D, Ayrton A, Morgan P, Roland Wolf C and Friedberg T. Endogenous drug transporters in in vitro and in vivo models for the prediction of drug disposition in man. Biochem Pharmacol 2002; 64: 1569-78.
28. Ozen F, Silan C, Uludag A, Candan F, Silan F, Ozdemir S, Atik S and Ozdemir O. Association between ABCB1 (MDR1) Gene 3435 C>T Polymorphism and Colchicine Unresponsiveness of FMF Patients. Ren Fail 2011; 33: 899-903.
29. Kim RB. Drugs as P-glycoprotein substrates, inhibitors, and inducers. Drug Metab Rev 2002; 34: 47-54.
30. Kimie S, Nahoko K, Masaya I, Yoshiro S, Ryuichi H, Kazuo K, Kazuyuki U, Shiro K, Masafumi K, Kuniaki S, Hironobu M, Atsushi O, Teruhiko Y, Nagahiro S, Yutaka K, Naoyuki K, Shogo O and Jun-ichi S. Haplotype analysis of ABCB1/MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan. Pharmacogenetics 2003; 13: 741-75.
31. Tang K, Ngoi SM, Gwee PC, Chua JM, Lee EJ, Chong SS, Lee CG. Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics 2002; 12: 437-450.
32. Kim RB. MDR1 single nucleotide polymorphisms: multiplicity of haplotypes and functional consequences. Pharmacogenetics 2002; 12: 425-427.