Association between ABCB1 (MDR1) gene 3435 C>T polymorphism and colchicine unresponsiveness of FMF patients

Renal Failure

Volumn 33, Issue 9, 2011, Pages 899-903

  Ozen, Filiz ^a   Silan, Coskun ^b   Uludag, Ahmet ^b   Candan, Ferhan ^a   Silan, Fatma ^b   Ozdemir, Semra ^a   Atik, Sinem ^b   Ozdemir, Ozturk ^a,b  

^a CUMHURIYET UNIVERSITY   (Turkey)

^b ÇANAKKALE ONSEKIZ MART UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

COLCHICINE; GENOMIC DNA; GLYCOPROTEIN P; MULTIDRUG RESISTANCE PROTEIN 1;

ADULT; ARTICLE; CHILD; DNA DETERMINATION; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; COLCHICINE; DNA MUTATIONAL ANALYSIS; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG ADMINISTRATION SCHEDULE; DRUG RESISTANCE; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; HUMANS; MALE; P-GLYCOPROTEIN; PHARMACOGENETICS; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX; TREATMENT FAILURE; YOUNG ADULT;

EID: 80053484643     PISSN: 0886022X     EISSN: 15256049     Source Type: Journal    
DOI: 10.3109/0886022X.2011.605980     Document Type: Article

References (40)

1. Sissung TM, Gardner ER, Piekarz RL, et al. Impact of ABCB1 allelic variants on QTc interval prolongation. Clin Cancer Res. 2011;17(4):937-946
2. Glaeser H. Importance of P-glycoprotein for drug-drug interactions. Handb Exp Pharmacol. 2011;201:285-297
3. Chan GN, Bendayan R. Molecular and functional characterization of P-glycoprotein in vitro. Methods Mol Biol. 2011;686:313-336
4. Tang K, Wong LP, Lee EJ, Chong SS, Lee CG. Genomic evidence for recent positive selection at the human MDR1 gene locus. Hum Mol Genet. 2004;13(8):783-797 (Pubitemid 38515208)
5. Sipeky C, Csongei V, Jaromi L, et al. Genetic variability and haplotype profile of MDR1 (ABCB1) gene in Roma and Hungarian population samples with a review of the literature. Drug Metab Pharmacokinet. 2011;26(2):206-215
6. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25-31
7. Ozdemir O, Sezgin I, Kurtulgan KH, et al. Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers. Mol Biol Rep. 2011;38(5): 3195-3200
8. Koksal B, Nur N, Sar? M, et al. Clinical and molecular analysis of commonMEFV gene mutations in familial Mediterranean fever in Sivas population. Biologia-Section Cell Mol Biol. 2009;64(2):388-393
9. Güngör Y, Kayatas M, Yildiz G, Özdemir Ö, Candan F. The presence of PAI-1 4G-5G and ACE DD genotypes increases the risk of early-session AVF thrombosis in hemodialysis patients. Ren Fail. 2011;33(2):169-175
10. Cocco G, Chu DC, Pandolfi S. Colchicine in clinical medicine. A guide for internists. Eur J Intern Med. 2010;21(6):503-508
11. Rigante D, La Torraca I, Avallone L, Pugliese AL, Gaspari S, Stabile A. The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever. Eur Rev Med Pharmacol Sci. 2006;10(4):173-738
12. Bhat A, Naguwa SM. Gershwin ME genetics and new treatment modalities for familial Mediterranean fever. Ann N Y Acad Sci. 2007;1110:201-208 (Pubitemid 350043009)
13. Dbouk HA, Uthman IW. An overview of familial Mediterranean fever with emphasis on pyrin and colchicine. J Med Liban. 2008;56(1):35-41 (Pubitemid 351427701)
14. Richaud-Patin Y, Soto-Vega E, Jakez-Ocampo J, Llorente L. P-glycoprotein in autoimmune diseases. Autoimmun Rev. 2004;3(3):188-192 (Pubitemid 38521093)
15. Nielsen D. Skovsgaard T. P-glycoprotein as multidrug transporter: A critical review of current multidrug resistant cell lines. Biochim Biophys Acta. 1992;1139(3):169-183
16. Weinstein RS, Kuszak JR, Kluskens LF, Coon JS. P-glycoproteins in pathology: The multidrug resistance gene family in humans. Hum Pathol. 1990;21(1):34-48 (Pubitemid 20042403)
17. Hoffmeyer S, Burk O, von Richter O, et al. Functional polymorphisms of the human multidrug-resistance 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 (Pubitemid 30183327)
18. Saatçi U, Ozen S, Ozdemir S, et al. Familial Mediterranean fever in children: Report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr. 1997;156(8):619-623 (Pubitemid 27351849)
19. Allabi AC, Horsmans Y, Issaoui B, Gala JL. Single nucleotide polymorphisms of ABCB1 (MDR1) gene and distinct haplotype profile in a West Black African population. Eur J Clin Pharmacol. 2005;61:97-102 (Pubitemid 40674741)
20. Ameyaw MM, Regateiro F, Li T, et al. MDR1 pharmacogenetics: Frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity. Pharmacogenetics 2001;11: 217-221 (Pubitemid 32319871)
21. Horinouchi M, Sakaeda T, Nakamura T, et al. Significant genetic linkage of MDR1 polymorphisms at positions 3435 and 2677: Functional relevance to pharmacokinetics of digoxin. Pharm Res. 2002;19:1581-1585 (Pubitemid 35266567)
22. Kroetz DL, Pauli-Magnus C, Hodges LM, et al. Pharmacogenetics of membrane transporters investigators. Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics 2003;13:481-494 (Pubitemid 37034590)
23. Tang K, Ngoi SM, Gwee PC, et al. Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics 2002;12:437-450 (Pubitemid 34913526)
24. Sakaeda T, Nakamura T, Horinouchi M, et al. MDR1 genotype-related pharmacokinetics of digoxin after single oral administration in healthy Japanese subjects. Pharm Res. 2001;18:1400-1404 (Pubitemid 32977244)
25. Nakamura T, Sakaeda T, Horinouchi M, et al. Effect of the mutation (C3435T) at exon 26 of the MDR1 gene on expression level of MDR1 messenger ribonucleic acid in duodenal enterocytes of healthy Japanese subjects. Clin Pharmacol Ther. 2002;71:297-303 (Pubitemid 34311459)
26. Kerb R, Aynacioglu AS, Brockmoller J, et al. The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels. Pharmacogenomics 2001;1:204-210
27. Schinkel AH, Wagenaar E, Mol CA, van Deemter L. P-glycoprotein in the blood-brain barrier of mice influences the brain penetration and pharmacological activity of many drugs. J Clin Invest. 1996;97:2517-2524 (Pubitemid 26187339)
28. Kim RB, Leake BF, Choo EF, et al. Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin Pharmacol Ther. 2001;70:189-199 (Pubitemid 32777772)
29. Rosenberg PM, Goldfinger SE, LaMont JT, Travis AC. Management of familial Mediterranean fever, 2010. Available at: http://www.uptodate.com. Accessed August 9, 2010
30. Ben-Chetrit E, Levy M. Does the lack of the P-glycoprotein efflux pump in neutrophils explain the efficacy of colchicine in familial Mediterranean fever and other inflammatory diseases? Med Hypotheses 1998;51(5):377-380 (Pubitemid 28508673)
31. Lidar M, Scherrmann JM, Shinar Y, et al. Colchicine nonresponsiveness in familial Mediterranean fever: Clinical, genetic, pharmacokinetic, and socioeconomic characterization. Semin Arthritis Rheum. 2004;33(4):273-282 (Pubitemid 38280826)
32. Dinarello CA,Wolfe SM, Goldfinger SE, et al. Colchicine therapy for familial Mediterranean fever - A double-blind trial. N Engl J Med. 1974;291:934-937
33. Soylemezoglu O, Arga M, Fidan K, et al. Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation. J Rheumatol. 2010;37(1):182-189
34. Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: Thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006;24(5):99-103
35. Tufan A, Babaoglu MO, Akdogan A, et al. Association of drug transporter gene ABCB1 (MDR1) 3435C to T polymorphism with colchicine response in familialMediterranean fever. J Rheumatol. 2007;34(7):1540-1544 (Pubitemid 47067992)
36. Saricaoglu H, Yilmaz M, Karkucak M, et al. Investigation of ABCB1 gene polymorphism with colchicine response in Behçets disease. Genet Mol Res. 2011;10(1):1-6
37. Ruth A, Stein WD, Rose E, Roninson IB. Coordinate changes in drug resistance and drug-induced conformational transitions in altered-function mutants of the multidrug transporter P-glycoprotein. Biochemistry 2001;40(14):4332-4339 (Pubitemid 32319579)
38. Chen B, Fang J, Zhang W, Jin Z, Yu Z, Cai W. Detection of C1236T, G2677T/A, and C3435T polymorphism of MDR1 by amplification refractory mutation system PCR. J Clin Lab Anal. 2009;23(2):110-116
39. Bernal ML, Sinues B, Fanlo A, Mayayo E. Frequency distribution of C3435T mutation in exon 26 of the MDR1 gene in a Spanish population. Ther Drug Monit. 2003;25(1): 107-111 (Pubitemid 36139834)
40. Annereau JP, Szakács G, Tucker CJ, et al. Analysis of ATP-binding cassette transporter expression in drug-selected cell lines by a microarray dedicated to multidrug resistances molecular pharmacology. Mol Pharmacol. 2004;66(6): 1397-1405 (Pubitemid 39564766)