Haplotype-based analysis of MDR1/ABCB1 gene polymorphisms in a Turkish population

DNA and Cell Biology

Volumn 29, Issue 2, 2010, Pages 83-90

  Gümüş Akay, Güvem ^a   Rüstemoǧlu, Aydin ^b   Karadaǧ, Aynur ^a   Sunguroǧlu, Asuman ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b GAZIOSMANPASA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN P; ABCB1 PROTEIN, HUMAN;

ARTICLE; CAUCASIAN; CHINESE; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; INDIA; JAPANESE; JEW; MDR1 GENE; NORMAL HUMAN; POPULATION DIFFERENTIATION; PRIORITY JOURNAL; RACE; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC); GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; STANDARD;

BASE SEQUENCE; GENETICS, POPULATION; HAPLOTYPES; HUMANS; MOLECULAR SEQUENCE DATA; P-GLYCOPROTEIN; POLYMORPHISM, GENETIC; REFERENCE STANDARDS; TURKEY;

EID: 84859499718     PISSN: 10445498     EISSN: None     Source Type: Journal    
DOI: 10.1089/dna.2009.0953     Document Type: Article

References (45)

1. Ambudkar, S.V., Kimchi-Sarfaty, C., Sauna, Z.E., and Gottesman, M.M. (2003). P-glycoprotein: from genomics to mechanism. Oncogene 22, 7468-7485.
2. Calado, R.T., Falcão, R.P., Garcia, A.B., Gabellini, S.M., Zago, M.A., and Franco, R.F. (2002). Influence of functional MDR1 gene polymorphisms on P-glycoprotein activity in CD34+ hematopoietic stem cells. Haematologica 87, 564-568.
3. Callen, D.F., Baker, E., and Simmers, R.N. (1987). Localization of the human multiple drug resistance gene, MDR1, to 7q21.1. Hum Genet 77, 142-144.
4. Cascorbi, I., Gerloff, T., Johne, A., Meisel, C., Hoffmeyer, S., Schwab, M., Schaeffeler, E., Eichelbaum, M., Brinkmann, U., and 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.
5. Chowbay, B., Cumaraswamy, S., Cheung, Y.B., Zhou, Q., and Lee, E.J. (2003). Genetic polymorphisms in MDR1 and CYP3A4 genes in Asians and the influence of MDR1 haplotypes on cyclosporin disposition in heart transplant recipients. Pharmacogenetics 13, 89-95.
6. Dlucq, S., Bouchet, S., Turcq, E., Lippert, E., Etienne, G., Reiffers, J., Molimard, M., Krajinovic, M., and Mahon, F.X. (2008). Multidrug resistance gene (MDR1) polymorphisms are associated with major molecular responses to standard-dose imatinib in chronic myeloid leukemia. Blood 112, 2024-2027.
7. Excoffier, L., and Slatkin, M. (1995). Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12, 921-927.
8. Goh, B.C., Lee, S.C., Wang, L.Z., Fan, L., Guo, J.Y., Lamba, J., Schuetz, E., Lim, R., Lim, H.L., Ong, A.B., and Lee, H.S. (2002). Explaining interindividual variability of docetaxel pharmacokinetics and pharmacodynamics in Asians through phenotyping and genotyping strategies. J Clin Oncol 20, 3683-3690.
9. Gümüş-Akay, G., Rüstemoǧlu, A., Karadaǧ, A., and Sunguroglu, A. (2008). Genotype and allele frequencies of MDR1 gene C1236T polymorphism in a Turkish population. Genet Mol Res 7, 1193-1199.
10. Hoffmeyer, S., Burk, O., von Richter, O., Arnold, H.P., Brockmöller, J., Johne, A., Cascorbi, I., Gerloff, T., Roots, I., Eichelbaum, M., and 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 USA 97, 3473-3478.
11. Illmer, T., Schuler, U.S., Thiede, C., Schwarz, U.I., Kim, R.B., Gotthard, S., Freund, D., Schäkel, U., Ehninger, G., and Schaich, M. (2002). MDR1 gene polymorphisms affect therapy outcome in acute myeloid leukemia patients. Cancer Res 62, 4955-4962.
12. Jamroziak, K., Balcerczak, E., Smolewski, P., Robey, R.W., Cebula, B., Panczyk, M., Kowalczyk, M., Szmigielska-Kapłon, A., Mirowski, M., Bates, S.E., and Robak, T. (2006). MDR1 (ABCB1) gene polymorphism C3435T is associated with P-glycoprotein activity in B-cell chronic lymphocytic leukemia. Pharmacol Rep 58, 720-728.
13. Jamroziak, K., Mlynarski, W., Balcerczak, E., Mistygacz, M., Trelinska, J., Mirowski, M., Bodalski, J., and 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.
14. Kato, M., Fukuda, T., Serretti, A., Wakeno, M., Okugawa, G., Ikenaga, Y., Hosoi, Y., Takekita, Y., Mandelli, L., Azuma, J., and Kinoshita, T. (2008). ABCB1 (MDR1) gene polymorphisms are associated with the clinical response to paroxetine in patients with major depressive disorder. Prog Neuropsychopharmacol Biol Psychiatry 32, 398-404.
15. Kim, R.B. (2002). MDR1 single nucleotide polymorphisms: multiplicity of haplotypes and functional consequences. Pharmacogenetics 12, 425-427.
16. Kim, R.B., Leake, B.F., Choo, E.F., Dresser, G.K., Kubba, S.V., Schwarz, U.I., Taylor, A., Xie, H.G., McKinsey, J., Zhou, S., Lan, L.B., Schuetz, J.D., Schuetz, E.G., and Wilkinson, G.R. (2001). Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin Pharmacol Ther 70, 189-199.
17. Kimchi-Sarfaty, C., Marple, A.H., Shinar, S., Kimchi, A.M., Scavo, D., Roma, M.I., Kim, I.W., Jones, A., Arora, M., Gribar, J., Gurwitz, D., and Gottesman, M.M. (2007a). Ethnicityrelated polymorphisms and haplotypes in the human ABCB1 gene. Pharmacogenomics 8, 29-39.
18. Kimchi-Sarfaty, C., Oh, J.M., Kim, I.W., Sauna, Z.E., Calcagno, A.M., Ambudkar, S.V., and Gottesman, M.M. (2007b). A silent polymorphism in the MDR1 gene changes substrate specificity. Science 315, 525-528.
19. Komoto, C., Nakamura, T., Sakaeda, T., Kroetz, D.L., Yamada, T., Omatsu, H., Koyama, T., Okamura, N., Miki, I., Tamura, T., Aoyama, N., Kasuga, M., and 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.
20. Kroetz, D.L., Pauli-Magnus, C., Hodges, L.M., Huang, C.C., Kawamoto, M., Johns, S.J., Stryke, D., Ferrin, T.E., DeYoung, J., Taylor, T., Carlson, E.J., Herskowitz, I., Giacomini, K.M., and Clark, A.G.; Pharmacogenetics of Membrane Transporters Investigators. (2003). Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics 13, 481-494.
21. Kurzawski, M., Droździk, M., Suchy, J., Kurzawski, G., Białecka, M., Górnik, W., and Lubiński, J. (2005). Polymorphism in the P-glycoprotein drug transporter MDR1 gene in colon cancer patients. Eur J Clin Pharmacol 61, 389-394.
22. Lee, S.S., Kim, S.Y., Kim, W.Y., Thi-Le, H., Yoon, Y.R., Yea, S.S., and Shin, J.G. (2005). MDR1 genetic polymorphisms and comparison of MDR1 haplotype profiles in Korean and Vietnamese populations. Ther Drug Monit 27, 531-535.
23. Lewontin, R.C. (1964). The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49, 49-67.
24. Lewontin, R.C., and Kojima, K. (1960). The evolutionary dynamics of complex polymorphisms. Evolution 14, 458-472.
25. Li, D., Zhang, G.L., Lou, Y.Q., Li, Q., Wang, X., and Bu, X.Y. (2007). Genetic polymorphisms in MDR1 and CYP3A5 and MDR1 haplotype in mainland Chinese Han, Uygur, Kazakh ethnic groups. J Clin Pharm Ther 32, 89-95.
26. Nei, M. (1987). Molecular Evolutionary Genetics (Columbia University Press, New York), p. 180.
27. Pan, J.H., Han, J.X., Wu, J.M., Huang, H.N., Yu, Q.Z., and Sheng, L.J. (2009). MDR1 single nucleotide polymorphism G2677T=A and haplotype are correlated with response to docetaxelcisplatin chemotherapy in patients with non-small-cell lung cancer. Respiration 78, 49-55.
28. Pan, J.H., Han, J.X., Wu, J.M., Sheng, L.J., Huang, H.N., and Yu, Q.Z. (2008). MDR1 single nucleotide polymorphisms predict response to vinorelbine-based chemotherapy in patients with non-small cell lung cancer. Respiration 75, 380-385.
29. Pechandova, K., Buzkova, H., Slanar, O., and Perlík, F. (2006). Polymorphisms of the MDR1 gene in the Czech population. Folia Biol (Praha) 52, 184-189.
30. Riordan, J.R., Deuchars, K., Kartner, N., Alon, N., Trent, J., and Ling, V. (1985). Amplification of P-glycoprotein genes in multidrug-resistant mammalian cell lines. Nature 316, 817-819. (Pubitemid 15003740)
31. Sai, K., Kaniwa, N., Itoda, M., Saito, Y., Hasegawa, R., Komamura, K., Ueno, K., Kamakura, S., Kitakaze, M., Shirao, K., Minami, H., Ohtsu, A., Yoshida, T., Saijo, N., Kitamura, Y., Kamatani, N., Ozawa, S., and Sawada, J. (2003). Haplotype analysis of ABCB1=MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan. Pharmacogenetics 13, 741-757.
32. Sakaeda, T. (2005). MDR1 genotype-related pharmacokinetics: fact or fiction? Drug Metab Pharmacokinet 20, 391-414.
33. Sakaeda, T., Nakamura, T., Horinouchi, M., Kakumoto, M., Ohmoto, N., Sakai, T., Morita, Y., Tamura, T., Aoyama, N., Hirai, M., Kasuga, M., and Okumura, K. (2001). MDR1 genotype-related pharmacokinetics of digoxin after single oral administration in healthy Japanese subjects. Pharm Res 18, 1400-1404.
34. Sapmaz, A., Ozen Karatayli, S.C., Daǧli, U., Kiliç, Z.M., Törüner, M., Celik, Y., Ozkan, M., Soykan, I., Cetinkaya, H., Ulker, A., Ozden, A., and Bozdayi, A.M. (2008). Effects of polymorphism in G2677T=A triallelic region of MDR1 gene in Turkish patients with inflammatory bowel disease. Turk J Gastroenterol 19, 168-173.
35. Schinkel, A.H. (1997). The physiological function of drugtransporting P-glycoproteins. Semin Cancer Biol 8, 161-170.
36. Sohn, J.W., Lee, S.Y., Lee, S.J., Kim, E.J., Cha, S.I., Kim, C.H., Lee, J.T., Jung, T.H., and Park, J.Y. (2006). MDR1 polymorphisms predict the response to etoposide-cisplatin combination chemotherapy in small cell lung cancer. Jpn J Clin Oncol 36, 137-141.
37. Tang, K., Ngoi, S.M., Gwee, P.C., Chua, J.M., Lee, E.J., Chong, S.S., and Lee, C.G. (2002). Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics 12, 437-450.
38. Tufan, A., Babaoglu, M.O., Akdogan, A., Yasar, U., Calguneri, M., Kalyoncu, U., Karadag, O., Hayran, M., Ertenli, A.I., Bozkurt, A., and Kiraz, S. (2007). Association of drug transporter gene ABCB1 (MDR1) 3435C to T polymorphism with colchicine response in familial Mediterranean fever. J Rheumatol 34, 1540-1544.
39. Turgut, S., Turgut, G., and Atalay, E.O. (2006). Genotype and allele frequency of human multidrug resistance (MDR1) gene C3435T polymorphism in Denizli province of Turkey. Mol Biol Rep 33, 295-300.
40. Turgut, S., Yaren, A., Kursunluoglu, R., and Turgut, G. (2007). MDR1 C3435T polymorphism in patients with breast cancer. Arch Med Res 38, 539-544.
41. Urayama, K.Y., Wiencke, J.K., Buffler, P.A., Chokkalingam, A.P., Metayer, C., and Wiemels, J.L. (2007). MDR1 gene variants, indoor insecticide exposure, and the risk of childhood acute lymphoblastic leukemia. Cancer Epidemiol Biomarkers Prev 16, 1172-1177.
42. Wasilewska, A., Zalewski, G., Chyczewski, L., and Zoch-Zwierz, W. (2007). MDR1 gene polymorphisms and clinical course of steroid-responsive nephrotic syndrome in children. Pediatr Nephrol 22, 44-51.
43. Xhemo, E., Fajac, A., Boire, J.Y., and Levy, P. (2007). MDRView: a visualization of the polymorphisms of MDR1(ABCB1) gene in breast cancer. Conf Proc IEEE Eng Med Biol Soc 2007, 4592-4594.
44. Xu, P., Jiang, Z.P., Zhang, B.K., Tu, J.Y., and Li, H.D. (2008). Impact of MDR1 haplotypes derived from C1236T, G2677T=Aand C3435T on the pharmacokinetics of single-dose oral digoxin in healthy Chinese volunteers. Pharmacology 82, 221-227.
45. Yi, S., Hong, K., Lim, H., Chung, J.Y., Oh, D.S., Kim, J.R., Jung, H.R., Cho, J.Y., Yu, K.S., Jang, I.J., and Shin, S.G. (2004). A variant 2677A allele of the MDR1 gene affects fexofenadine disposition. Clin Pharmacol Ther 76, 418-427.