ABCB1 gene polymorphisms and haplotype analysis in colorectal cancer

International Journal of Colorectal Disease

Volumn 24, Issue 8, 2009, Pages 895-905

  Panczyk, Mariusz ^a   Balcerczak, Ewa ^a   Piaskowski, Sylwester ^a   Jamroziak, Krzysztof ^a   Pasz Walczak, Grazyna ^a   Mirowski, Marek ^a  

^a MEDICAL UNIVERSITY OF LODZ   (Poland)

Author keywords

ABCB1 gene; Colorectal cancer; Haplotype analysis; MDR1 gene; Polymorphism

Indexed keywords

ADENINE; CYTOSINE; FLUOROURACIL; FOLINIC ACID; GUANINE; MULTIDRUG RESISTANCE PROTEIN 1; THYMINE;

ADJUVANT THERAPY; ADULT; ARTICLE; CANCER ADJUVANT THERAPY; CANCER COMBINATION CHEMOTHERAPY; CANCER SURVIVAL; CANCER SURVIVOR; COLON CARCINOGENESIS; COLORECTAL CANCER; CONTROLLED STUDY; DRUG EFFICACY; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENE STRUCTURE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CASE-CONTROL STUDIES; CHEMOTHERAPY, ADJUVANT; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; FLUOROURACIL; GENE EXPRESSION REGULATION, NEOPLASTIC; GENE FREQUENCY; GENETIC SCREENING; HAPLOTYPES; HUMANS; KAPLAN-MEIERS ESTIMATE; LEUCOVORIN; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; P-GLYCOPROTEIN; PATIENT SELECTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; TIME FACTORS; TREATMENT OUTCOME; TUMOR MARKERS, BIOLOGICAL;

EID: 67649467477     PISSN: 01791958     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00384-009-0724-0     Document Type: Article

References (50)

1. Higgins CF (1992) ABC transporters: From microorganisms to man. Annu Rev Cell Biol 8:67-113
2. Ambudkar SV, Dey S, Hrycyna CA, Ramachandra M, Pastan I, Gottesman MM (1999) Biochemical, cellular, and pharmacological aspects of the multidrug transporter. Annu Rev Pharmacol Toxicol 39:361-398
3. Gottesman MM, Pastan I, Ambudkar SV (1996) P-glycoprotein and multidrug resistance. Curr Opin Genet Dev 6:610-617
4. Marzolini C, Paus E, Buclin T, Kim RB (2004) Polymorphisms in human MDR1 (P-glycoprotein): Recent advances and clinical relevance. Clin Pharmacol Ther 75:13-33
5. Sakaeda T, Nakamura T, Okumura K (2003) Pharmacogenetics of MDR1 and its impact on the pharmacokinetics and pharmacodynamics of drugs. Pharmacogenomics 4:397-410
6. Tanigawara Y (2000) Role of P-glycoprotein in drug disposition. Ther Drug Monit 22:137-140
7. Terao T, Hisanaga E, Sai Y, Tamai I, Tsuji A (1996) Active secretion of drugs from the small intestinal epithelium in rats by P-glycoprotein functioning as an absorption barrier. J Pharm Pharmacol 48:1083-1089
8. Kemp Z, Thirlwell C, Sieber O, Silver A, Tomlinson I (2004) An update on the genetics of colorectal cancer. Hum Mol Genet 13:R177-185
9. Potocnik U, Ravnik-Glavac M, Golouh R, Glavac D (2002) Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: Correlation with microsatellite instability and lymphoid infiltration in colorectal cancers. J Med Genet 39:340-346
10. 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, Clark AG, Pharmacogenetics of Membrane Transporters Investigators (2003) Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics 13:481-494 Erratum in: Pharmacogenetics 13:701
11. Cascorbi I, Gerloff T, Johne A, Meisel C, Hoffmeyer S, Schwab M, Schaeffeler E, Eichelbaum M, Brinkmann U, Roots I (2001) Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects. Clin Pharmacol Ther 69:169-174
12. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmoller J, Johne A, Cascorbi I, Gerloff T, Roots I, Eichelbaum M, Brinkmann U (2000) 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 U S A 97:3473-3478
13. Sakaeda T (2005) MDR1 genotype-related pharmacokinetics: Fact or fiction? Drug Metab Pharmacokinet 20:391-414
14. Sakaeda T, Nakamura T, Okumura K (2004) Pharmacogenetics of drug transporters and its impact on the pharmacotherapy. Curr Top Med Chem 4:1385-1398
15. Tang K, Ngoi SM, Gwee PC, Chua JM, Lee EJ, Chong SS, Lee CG (2002) Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics 12:437-450
16. Kim RB, Leake B, Choo E, Dresser GK, Kubba SV, Schwarz UI, Taylor A, Xie H-G, Stein CM, Wood AJJ, McKinsey J, Schuetz EG, Schuetz JD, Wilkinson GR (2000) Drug Metab Rev 32, Abstract 199
17. Siegsmund M, Brinkmann U, Schaffeler E, Weirich G, Schwab M, Eichelbaum M, Fritz P, Burk O, Decker J, Alken P, Rothenpieler U, Kerb R, Hoffmeyer S, Brauch H (2002) Association of the P-glycoprotein transporter MDR1(C3435T) polymorphism with the susceptibility to renal epithelial tumors. J Am Soc Nephrol 13:1847-1854
18. Jamroziak K, Młynarski W, Balcerczak E, Mistygacz M, Trelinska J, Mirowski M, Bodalski J, Robak T (2004) Functional C3435T polymorphism of MDR1 gene: An impact on genetic susceptibility and clinical outcome of childhood acute lymphoblastic leukemia. Eur J Haematol 72:314-321
19. Humeny A, Rodel F, Rodel C, Sauer R, Fuzesi L, Becker C, Efferth T (2003) MDR1 single nucleotide polymorphism C3435T in normal colorectal tissue and colorectal carcinomas detected by MALDI-TOF mass spectrometry. Anticancer Res 23:2735-2740
20. Komoto C, Nakamura T, Sakaeda T, Kroetz DL, Yamada T, Omatsu H, Koyama T, Okamura N, Miki I, Tamura T, Aoyama N, Kasuga M, Okumura K (2006) MDR1 haplotype frequencies in Japanese and Caucasian, and in Japanese patients with colorectal cancer and esophageal cancer. Drug Metab Pharmacokinet 21:126-132
21. Kurzawski M, Drozdzik M, Suchy J, Kurzawski G, Bialecka M, Gornik W, Lubinski J (2005) Polymorphism in the P-glycoprotein drug transporter MDR1 gene in colon cancer patients. Eur J Clin Pharmacol 61:389-394
22. Osswald E, Johne A, Laschinski G, Arjomand-Nahad F, Malzahn U, Kirchheiner J, Gerloff T, Meisel C, Mrozikiewicz PM, Chernov J, Roots I, Köpke K (2007) Association of MDR1 genotypes with susceptibility to colorectal cancer in older non-smokers. Eur J Clin Pharmacol 63:9-16
23. Gill S, Sinicrope FA (2005) Colorectal cancer prevention: Is an ounce of prevention worth a pound of cure? Semin Oncol 32:24-34
24. Mochida Y, Taguchi K, Taniguchi S, Tsuneyoshi M, Kuwano H, Tsuzuki T, Kuwano M, Wada M (2003) The role of P-glycoprotein in intestinal tumorigenesis: Disruption of mdr1a suppresses polyp formation in Apc(Min/ +) mice. Carcinogenesis 24:1219-1224
25. Kankesan J, Vanama R, Yusuf A, Thiessen JJ, Ling V, Rao PM, Rajalakshmi S, Sarma DS (2004) Effect of PSC 833, an inhibitor of P-glycoprotein on N-methyl-N-nitrosourea induced mammary carcinogenesis in rats. Carcinogenesis 25:425-430
26. Kankesan J, Yusuf A, Laconi E, Vanama R, Bradley G, Thiessen JJ, Ling V, Rao PM, Rajalakshmi S, Sarma DS (2003) Effect of PSC 833, an inhibitor of P-glycoprotein, on 1, 2-dimethylhydrazine-induced liver carcinogenesis in rats. Carcinogenesis 24:1977-1984
27. Tanabe M, Ieiri I, Nagata N, Inoue K, Ito S, Kanamori Y, Takahashi M, Kurata Y, Kigawa J, Higuchi S, Terakawa N, Otsubo K (2001) Expression of P-glycoprotein in human placenta: Relation to genetic polymorphism of the multidrug resistance (MDR)-1 gene. J Pharmacol Exp Ther 297:1137-1143
28. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
29. Slatkin M, Excoffier L (1996) Testing for linkage disequilibrium in genotypic data using the Expectation-Maximization algorithm. Heredity 76:377-383
30. Petrova DT, Nedeva P, Maslyankov S, Toshev S, Yaramov N, Atanasova S, Toncheva D, Oellerich M, von Ahsen N (2008) No association between MDR1 (ABCB1) 2677G>T and 3435C>T polymorphism and sporadic colorectal cancer among Bulgarian patients. J Cancer Res Clin Oncol 134:317-322
31. Ho GT, Moodie FM, Satsangi J (2003) Multidrug resistance 1 gene (Pglycoprotein 170): An important determinant in gastrointestinal disease? Gut 52:759-766
32. Ameyaw MM, Regateiro F, Li T, Liu X, Tariq M, Mobarek A, Thornton N, Folayan GO, Githang'a J, Indalo A, Ofori-Adjei D, Price-Evans DA, McLeod HL (2001) MDR1 pharmacogenetics: Frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity. Pharmacogenetics 11:217-221
33. Schaeffeler E, Eichelbaum M, Brinkmann U, Penger A, Asante-Poku S, Zanger UM, Schwab M (2001) Frequency of C3435T polymorphism of MDR1 gene in African people. Lancet 358:383-384
34. Schoen RE (2000) Families at risk for colorectal cancer: Risk assessment and genetic testing. J Clin Gastroenterol 31:114-120
35. Schwab M, SchaeVeler E, Marx C, Fromm MF, Kaskas B, Metzler J, Stange E, Herfarth H, Schoelmerich J, Gregor M, Walker S, Cascorbi I, Roots I, Brinkmann U, Zanger UM, Eichelbaum M (2003) Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis. Gastroenterology 124:26-33
36. Urcelay E, Mendoza JL, Martin MC, Mas A, Martinez A, Taxonera C, Fernandez-Arquero M, Diaz-Rubio M, de la Concha EG (2006) MDR1 gene: susceptibility in Spanish Crohn's disease and ulcerative colitis patients. InXamm Bowel Dis 12:33-37
37. Gaikovitch E, Mrozikievicz P, Wagner F, Roots I (2004) Association of C3435T and G2677T/A polymorphisms of multidrug resistance gene with colorectal cancer risk. Clin Pharmacol Ther 75:17
38. Saito K, Miyake S, Moriya H, Yamazaki M, Itoh F, Imai K, Kurosawa N, Owada E, Miyamoto A (2003) Detection of the four sequence variations of MDR1 gene using TaqMan MGB probe based real-time PCR and haplotype analysis in healthy Japanese subjects. Clin Biochem 36:511-518
39. Taniguchi S, Mochida Y, Uchiumi T, Tahira T, Hayashi K, Takagi K, Shimada M, Maehara Y, Kuwano H, Kono S, Nakano H, Kuwano M, Wada M (2003) Genetic polymorphism at the 5′ regulatory region of multidrug resistance 1 (MDR1) and its association with interindividual variation of expression level in the colon. Mol Cancer Ther 2:1351-1359
40. Rund D, Azar I, Shperling O (1999) A mutation in the promoter of the multidrug resistance gene (MDR1) in human hematological malignancies may contribute to the pathogenesis of resistant disease. Adv Exp Med Biol 457:71-75
41. Colombo S, Soranzo N, Rotger M, Sprenger R, Bleiber G, Furrer H, Buclin T, Goldstein D, Decosterd L, Telenti A; Swiss HIV Cohort Study (2005) Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo. Pharmacogenet Genomics 15:599-608
42. Potocnik U, Glavac D, Dean M (2008) Common germline MDR1/ABCB1 functional polymorphisms and haplotypes modify susceptibility to colorectal cancers with high microsatellite instability. Cancer Genet Cytogenet 183:28-34
43. Yamada T, Takaoka AS, Naishiro Y, Hayashi R, Maruyama K, Maesawa C, Ochiai A, Hirohashi S (2000) Transactivation of the multidrug resistance 1 gene by T-cell factor 4/beta-catenin complex in early colorectal carcinogenesis. Cancer Res 60:4761-4766
44. Potocnik U, Ferkolj I, Glavac D, Dean M (2004) Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis. Genes Immun 5:530-539
45. Sakaeda T, Nakamura T, Okumura K (2002) MDR1 genotype-related pharmacokinetics and pharmacodynamics. Biol Pharm Bull 25:1391-400
46. Zimprich F, Sunder-Plassmann R, Stogmann E, Gleiss A, Dal-Bianco A, Zimprich A, Plumer S, Baumgartner C, Mannhalter C (2004) Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy. Neurology 63:1087-1089
47. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (2007) A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315:525-528
48. Smyth MJ, Krasovskis E, Sutton VR, Johnstone RW (1998) The drug efflux protein, P-glycoprotein, additionally protects drug-resistant tumor cells from multiple forms of caspase-dependent apoptosis. Proc Natl Acad Sci U S A 95:7024-7029
49. Longley DB, Harkin DP, Johnston PG (2003) 5-fluorouracil: Mechanisms of action and clinical strategies. Nat Rev Cancer 3:330-338
50. Coleman MP, Gatta G, Verdecchia A, Esteve J, Sant M, Storm H, Allemani C, Ciccolallo L, Santaquilani M, Berrino F, EUROCARE Working Group (2003) EUROCARE-3 summary: Cancer survival in Europe at the end of the 20th century. Ann Oncol 14(Suppl 5):v128-149