Volume 25, Issue 1 (1-2021)                   IBJ 2021, 25(1): 54-61 | Back to browse issues page

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Mohammadi F, Shafiei M, Assad D, Rostami G, Hamid M, Foroughmand A M. Impact of ABCB1 Gene Polymorphisms and Smoking on the Susceptibility Risk of Chronic Myeloid Leukemia and Cytogenetic Response. IBJ 2021; 25 (1) :54-61
URL: http://ibj.pasteur.ac.ir/article-1-3232-en.html
Impact of ABCB1 Gene Polymorphisms and Smoking on the Susceptibility Risk of Chronic Myeloid Leukemia and Cytogenetic Response
Fatemeh Mohammadi , Mohammad Shafiei , Dlnya Assad , Golale Rostami * , Mohammad Hamid , Ali Mohammad Foroughmand
Abstract:  
Background: Imatinib mesylate (IM), a strong and selective tyrosine kinase inhibitor, has been approved as the front line of treatment in chronic myeloid leukemia (CML) patients. In spite of satisfactory results of imatinib in the treatment of patients with CML, patients with treatment failure or suboptimal response developed resistance that might be because of pharmacogenetic variants. This study attempted to evaluate the influence of ABCB1 gene polymorphisms and smoking on CML risk and resistance to imatinib. Methods: ABCB1 (c.1236C>T, c.3435C>T) polymorphisms were genotyped in 98 CML patients and 100 sex- and age-matched healthy subjects by PCR-RFLP method, followed by sequencing. The patients were evaluated for cytogenetic response by the standard chromosome banding analysis in regular intervals. Results: Our results showed that c.1236CC genotype was significantly associated with imatinib resistance (OR = 3.94; p = 0.038). Analysis of the joint of single nucleotide polymorphism -smoking combination showed that smokers with c.1236TT/CT and c.1236CC genotypes had the increased risk of CML (OR = 6.04; p = 0.00 and OR = 4.95, p = 0.005) and treatment failure (OR = 5.36, p = 0.001 and OR = 15.7, p = 0.002), respectively. Smokers with c.3435TT/CT and c.3435CC genotypes also displayed the elevated risk of CML development (OR = 6.01, p = 0 and OR = 4.36, p = 0.011) and IM resistance (OR = 5.61, p = 0.001 and OR = 13.58, p = 0.002), respectively. Conclusion: Our findings suggest that c.1236CC genotype has clinical importance in the prediction of treatment outcome with IM, and smoking could have a synergistic role in CML risk and IM resistance.
Keywords: ATP binding cassette transporter subfamily B, Imatinib mesylate, Smoking
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Type of Study: Full Length/Original Article | Subject: Molecular Genetics & Genomics
References
1. Rostami G, Assad D, Ghadyani F, Hamid M, Karami A, Jalaeikhoo H, Kalahroodi RA. Influence of glutathione S‐transferases (GSTM1, GSTT1, and GSTP1) genetic polymorphisms and smoking on susceptibility risk of chronic myeloid leukemia and treatment response. Molecular genetics and genomic medicine 2019; 7(7): e00717. [DOI:10.1002/mgg3.717]
2. Peng XX, Tiwari AK, Wu HC, Chen ZS. Overexpression of P-glycoprotein induces acquired resistance to imatinib in chronic myelogenous leukemia cells. Chinese journal of cancer 2012; 31(2): 110-118. [DOI:10.5732/cjc.011.10327]
3. Baccarani M, Saglio G, Goldman J, Hochhaus A, Simonsson B, Appelbaum F, Apperlry J, Cervantes F, Cortes J, Deiniger M, Gratwohl A, Guilhot F, Horowitz M, Hughes T, Kantarijian H, Larson R, Niederwieser D, Silver R, Hehlmann R, European LeukemiaNte. Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood 2006; 108(6): 1809-1820. [DOI:10.1182/blood-2006-02-005686]
4. Jabbour E, Kantarjian H, Jones D, Talpaz M, Bekele N, O'brien S, Zhou X, Luthra R, Manero GG, Giles F, Rios MB, Verstovsek S, Cortes J. Frequency and clinical significance of BCR-ABL mutations in patients with chronic myeloid leukemia treated with imatinib mesylate. Leukemia 2006; 20(10): 1767-1773. [DOI:10.1038/sj.leu.2404318]
5. Au A, Baba AA, Goh AS, Fadilah SAW, Teh A, Rosline H, Ankathil R. Association of genotypes and haplotypes of multi-drug transporter genes ABCB1 and ABCG2 with clinical response to imatinib mesylate in chronic myeloid leukemia patients. Biomedicine and pharmacotherapy 2014; 68(3): 343-349. [DOI:10.1016/j.biopha.2014.01.009]
6. Zhu CY, Lv YP, Yan DF, Gao FL. Knockdown of MDR1 increases the sensitivity to adriamycin in drug resistant gastric cancer cells. Asian Pacific journal of cancer prevention 2013; 14(11): 6757-6760. [DOI:10.7314/APJCP.2013.14.11.6757]
7. De Oliveira J, Felipe AV, Neto RA, Oshima CT, de Souza Silva M, Forones NM. Association between ABCB1 immunohistochemical expression and overall survival in gastric cancer patients. Asian Pacific journal of cancer prevention 2014; 15(16): 6935-6938. [DOI:10.7314/APJCP.2014.15.16.6935]
8. Anthony A, Ankathil R, Ai G, Sfadilah AW, Baba A. Influence of ABCB1 C3435T and ABCG2 C421A gene polymorphisms in response to imatinib mesylate in chronic myeloid leukemia patients. International journal of environmental science and development 2012; 3(3): 274-278. [DOI:10.7763/IJESD.2012.V3.230]
9. Rychlik-Sych M, Barańska M, Dudarewicz M, Skrętkowicz J, Żebrowska A, Woźniacka A, Owczarek J, Orszulak-Michalak D, Waszuzykowska E. Haplotypes of ABCB1 1236C>T (rs1128503), 2677G>T/A (rs2032582), and 3435C>T (rs1045642) in patients with bullous pemphigoid. Archives of dermatological research 2018; 310(6): 515-522. [DOI:10.1007/s00403-018-1842-8]
10. Picchianti-Diamanti A, Rosado MM, Scarsella M, Laganà B, D'Amelio R. P-glycoprotein and drug resistance in systemic autoimmune diseases. International journal of molecular sciences 2014; 15(3): 4965-4976. [DOI:10.3390/ijms15034965]
11. Abuhaliema MA, Yousef AM, Elmadany NN, Bulatova NR, Awwad NM, Yousef MA, Al Majdalawi KZ. Influence of genotype and haplotype of MDR1 (C3435T, G2677A/T, C1236T) on the incidence of breast cancer-a case-control study in Jordan. Asian pacific journal of cancer prevention 2016; 17(1): 261-266. [DOI:10.7314/APJCP.2016.17.1.261]
12. Panczyk M, Balcerczak E, Piaskowski S, Jamroziak K, Pasz-Walczak G, Mirowski M. ABCB1 gene polymorphisms and haplotype analysis in colorectal cancer. International journal of colorectal disease 2009; 24(8): 895-905. [DOI:10.1007/s00384-009-0724-0]
13. Nair D, Dhangar S, Shanmukhaiah C, Vundinti BR. Association of genetic polymorphisms of the ABCG2, ABCB1, SLCO1B3 genes and the response to imatinib in chronic myeloid leukemia patients with chronic phase. Meta gene 2017; 11: 14-19. [DOI:10.1016/j.mgene.2016.11.002]
14. Baccarani M, Cortes J, Pane F, Niederwieser D, Saglio G, Apperley J, Cervantes F, Deininger M, Gratwohl A, Guilhot F, Hochhaus A, Horowitz M, Hughes T, Kantarjian H, Larson R, Rasich J, Simonsson B, Silver RT, Goldman J, Hehlmann R, European LeukemiaNet. Chronic myeloid leukemia: an update of concepts and management recommendations of European LeukemiaNet. Journal of clinical oncology 2009; 27(35): 6041-6651. [DOI:10.1200/JCO.2009.25.0779]
15. Steegmann JL, Baccarani M, Breccia M, Casado L, García-Gutiérrez V, Hochhaus A, Kim DW, Kim TD, Khoury HJ, Le Coutre P, Mayer J, Milojkovic D, Porkka K, Rea D, Rosti G, Saussele S, Hehlmann R, Clark RE. European LeukemiaNet recommendations for the management and avoidance of adverse events of treatment in chronic myeloid leukaemia. Leukemia 2016; 30(8): 1648-1671. [DOI:10.1038/leu.2016.104]
16. Schoch C, Schnittger S, Bursch S, Gerstner D, Hochhaus A, Berger U, Hehlmann R, Hiddemann W, Haferlach T. Comparison of chromosome banding analysis, interphase-and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases. Leukemia 2002; 16(1): 53-59. [DOI:10.1038/sj.leu.2402329]
17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic acids research 1988; 16(3): 1215. [DOI:10.1093/nar/16.3.1215]
18. Dulucq S, Bouchet S, Turcq B, Lippert E, Etienne G, Reiffers J, Molimard M, Karajinovic M, Mahon FX. Multidrug resistance gene (MDR1) polymorphisms are associated with major molecular responses to standard-dose imatinib in chronic myeloid leukemia. Blood 2008; 112(5): 2024-2027. [DOI:10.1182/blood-2008-03-147744]
19. Mahon FX, Belloc F, Lagarde V, Chollet C, Moreau-Gaudry F, Reiffers J, Goldman JM, Melo JV. MDR1 gene overexpression confers resistance to imatinib mesylate in leukemia cell line models. Blood 2003; 101(6): a2368-a2373. [DOI:10.1182/blood.V101.6.2368]
20. Gurney H, Wong M, Balleine R, Rivory L, McLachlan A, Hoskins J, Wilcken N, Clarke CL, Mann GJ, Collins M, Delforce Se, Lynch K, Schran H. Imatinib disposition and ABCB1 (MDR1, P‐glycoprotein) genotype. Clinical pharmacology and therapeutics 2007; 82(1): 33-40. [DOI:10.1038/sj.clpt.6100201]
21. Zu B, Li Y, Wang X, He D, Huang Z, Feng W. MDR1 gene polymorphisms and imatinib response in chronic myeloid leukemia: a meta-analysis. Pharmacogenomics 2014; 15(5): 667-677. [DOI:10.2217/pgs.13.222]
22. Deenik W, van der Holt B, Janssen JJWM, Chu IWT, Valk PJM, Ossenkoppele GJ, van der Heiden IP, Sonneveld P, van Schaik RHN, Cornelissen JJ. Polymorphisms in the multidrug resistance gene MDR1 (ABCB1) predict for molecular resistance in patients with newly diagnosed chronic myeloid leukemia receiving high-dose imatinib. Blood 2010; 116(26): 6144-6145. [DOI:10.1182/blood-2010-07-296954]
23. Rinaldi I, Nova R, Widyastuti R, Priambodo R, Instiaty I, Louisa M. Association between C1236T genetic variant of ABCB1 gene and molecular response to imatinib in Indonesian chronic myeloid patients. Asian pacific journal of cancer prevention 2019; 20(11): 3331-3334. [DOI:10.31557/APJCP.2019.20.11.3331]
24. Hassine IB, Gharbi H, Soltani I, Othman HBH, Farrah A, Amouri H, Teber M, Ghedira H, Ben Youssef Y, Safra I, Abbves S, Menif S. Molecular study of ABCB1 gene and its correlation with imatinib response in chronic myeloid leukemia. Cancer chemotherapy and pharmacology 2017; 80(4): 829-839. [DOI:10.1007/s00280-017-3424-4]
25. Lardo M, Castro M, Moiraghi B, Rojas F, Borda N, Rey JA, Lazarowski A. MDR1/ABCB1 gene polymorphisms in patients with chronic myeloid leukemia. Blood research 2015; 50(3): 154-159. [DOI:10.5045/br.2015.50.3.154]
26. Ni LN, Li JY, Miao KR, Qiao C, Zhang SJ, Qiu HR, Qian SX. Multidrug resistance gene (MDR1) polymorphisms correlate with imatinib response in chronic myeloid leukemia. Medical oncology 2011; 28(1): 265-269. [DOI:10.1007/s12032-010-9456-9]
27. Sayyed K, Le Vee M, Abdel-Razzak Z, Jouan E, Stieger B, Denizot C, Parmentier Y, Fardel O. Alteration of human hepatic drug transporter activity and expression by cigarette smoke condensate. Toxicology 2016; 363-364: 58-71. [DOI:10.1016/j.tox.2016.07.011]
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