Türk popülasyonunda Polisitemia vera hastalarında CYP 2D6*4 polimorfizmi

Amaç: Birçok çalışma, ksenobiyotiklerin biyotransformasyonundan

CYP 2D6* 4 polymorphism in Polycythemia vera patients in Turkish population

Objective: Many studies have shown the association of

___

  • Tefferi A, Elliott M. Thrombosis in myeloproliferative disorders: Prevalence, prognostic factors, and the role of leukocytes and JAK2V617F. Semin Thromb Hemost 2007; 33:313-20. doi: 10.1055/s-2007-976165.
  • Spivak JL, Barosi G, Tognoni G, et al. Chronic myeloproliferative disorders. Hematology (Am Soc Hematol Educ Program) 2003; 200-24. doi: 10.1182/ asheducation-2003.1.200.
  • Tefferi A. Pathogenetic mechanisms in chronic myeloproliferative disorders: polycythemia vera, essential thrombocythemia, agnogenic myeloid metaplasia, and chronic myelogenous leukemia. Seminars in Hematology 1999; 36:3–8.
  • Bilgrami S, Greenberg, B R. Polycythemia rubra vera. Semin Oncol 1995; 22:307-26.
  • Samuelsson J. Survival in a patient with polycthemia vera for over thirty years: implications for treatment decisions in younger patients. Leukemia and Lymphoma 1998; 32:195-8. doi: 10.3109/10428199809059262.
  • Gonzalez FJ, Tukey RH, (editors). Drug Metabolism: How Humans Cope with Exposure to Xenobiotics.” Goodman and Gilman’s the Pharmacological Basis of Therapeutics. New York, NY: McGraw-Hill, 2012.
  • Guengerich FP. Cytochrome p450 and chemical toxicology. Chem Res Toxicol 2008; 21:70-83. doi: 10.1021/tx700079z.
  • Bock KW, Lilienblum W, Fischer G, et al. The role of conjugation reactions in detoxication. Arch Toxicol 1987; 60:22-29.
  • Jancova P, Anzenbacher P, Anzenbacherova E. Phase II drug metabolizing enzymes. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2010; 154:103-16.
  • Abraham JE, Maranian MJ, Driver KE, et al. CYP 2D6 gene variants: association with breast cancer specific survival in a cohort of breast cancer patients from the United Kingdom treated with adjuvant tamoxifen. Breast Cancer Res 2010;12:R64. doi: 10.1186/bcr2629.
  • Cholerton S, Daly AK, Idle JR. The role of individual human cytochromes P450 in drug metabolism and clinical response. Trends Pharmacol Sci 1992; 13:434-9.
  • Bertilsson L, Dahl ML, Dalén P and Al-Shurbaji A. Molecular genetics of CYP 2D6: Clinical relevance with focus on psychotropic drugs. Br J Clin Pharmacol 2002; 53:111-22. doi: 10.1046/j.0306-5251.2001.01548.x.
  • Sachse C, Brockmoller J, Bauer S, et al. Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am J Hum Genet 1997; 60:284-95.
  • Hanioka N, Kimura S, Meyer UA, et al. The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP 2D6 allele results in an aberrant 3’ splice recognition site. Am J Hum Genet 1990; 47:994-1001.
  • Zanger UM, Schwab M. Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression,enzyme activities, and impact of genetic variation. Pharmacology & Therapeutics 2013; 138:103-41. doi: 10.1016/j. pharmthera.2012.12.007.
  • Bertilsson L, Dahl ML, Sjo¨qvist F, et al. Molecular basis for rational megaprescribing inultrarapid hydroxylators of debrisoquine. Lancet 1993; 341:63.
  • Christensen РМ, Gotzsche PC, Brosen K. The sparteine/ debrisoquine (CYP 2D6) oxidation polymorphism and the risk of lung cancer: a metaanalysis. Eur J Clin Pharmacol 1997; 51:389-93. doi: 10.1007/s002280050219.
  • Taninghera M, Malacarnea D, Ugolinia A, et al. Drug metabolism polymorphisms as modulators of cancer susceptibility. Mutation Research/Reviews in Mutation Research 1999; 436:227–61.
  • Preston-Martin S, Pike MC, Ross RK, et al. Increased cell division as a cause of human cancer. Cancer Res 1990; 50:7415-21.
  • Schur BC, Bjerke J, Nuwayhid N, et al. Genotyping of cytochrome P450 2D6*3 and *4 mutations using conventional PCR*. Clinica Chimica Acta 2001; 308:25-31. doi: 10.1016/ S0009-8981(01)00422-3.
  • Kim JW, Lee CG, Park YG, et al. Combined analysis of germline polymorphisms of p53, GSTM1, GSTT1, CYP1A1, and CYP2E1: relation to the incidence rate of cervical carcinoma. Cancer 2000; 88:2082-91. doi: 10.1002/(SICI)1097-0142(20000501)88:9<2082::AIDCNCR14> 3.0.CO;2-D.
  • Morgan GJ, Smith MT. Metabolic enzyme polymorphisms and susceptibility to acute leukemia in adults. Am J Pharmacogenomics 2002; 2(2).
  • Hatagima, A. Genetic polymorphisms and metabolism of endocrine disruptors in cancer susceptibility. Cad. Saúde Pública Rio de Janeiro 2002; 18:357-77.
  • Anwar WA, Abdel-Rahman SZ, El-Zein RA, et al. Genetic polymorphism of GSTM1, CYP2E1 and CYP 2D6 in Egyptian bladder cancer patients. Carcinogenesis 1996; 17: 1923-29.
  • Caporaso NE, Tucker MA, Hoover RN, et al. Lung cancer and the debrisoquine metabolic phenotype. J Natl Cancer Inst 1990; 82:1264-72.
  • Ingelman-Sundberg M. Genetic polymorphisms of cytochrome P4502D6 (CYP 2D6): clinical consequences, evolutionary aspects and functional diversity, The Pharmacogenomics J 2005; 5:6 – 13. doi:10.1038/ sj.tpj.6500285.
  • Roddam PL, Rollinson S, Kane E, et al. Poor metabolizers at the cytochrome P450 2D6 and 2C19 loci are at increased risk of developing adult acute leukaemia, Pharmacogenetics 2000; 10:605-15.
  • Worrall SF, Corrigan M, High A, et al. Susceptibility and outcome in oral cancer: preliminary data showing an association with polymorphism in cytochrome P450 CYP 2D6. Pharmacogenetics 1998; 8:433-9.
  • Smith CA, Gough AC, Leigh PN, et al. Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson’s disease. Lancet 1992; 339:1375–7.
  • Sarmanova J, Benesova K, Gut I, et al. Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin’s and non-Hodgkin’s lymphomas. Hum Mol Genet 2001;10:1265- 73.
  • Aydin-Sayitoglu M, Hatirnaz O, Erensoy N, et al. Role of CYP 2D6, CYP1A1, CYP2E1, GSTT1, and GSTM1 genes in the susceptibility to acute leukemias. Am J Hematol 2006;81:162-70. doi: 10.1002/ajh.20434.
  • Sailaja K, Vishnupriya S, Surekha D, et al. Association of CYP 2D6* 4 Polymorphism with Chronic Myeloid Leukemia. Journal of Medical Sciences Research 2007; 1(1).
  • Lemos MC, Cabrita FJ, Silva HA, et al. Genetic polymorphism of CYP 2D6, GSTM1 and NAT2 and susceptibility to haematological neoplasias. Carcinogenesis 1999; 20: 1225- 9.
  • Tayser KE, Ehsan G, Ghonemy EE, et al. Study of genetic polymorphism of xenobiotic enzymes in acute leukemia. Blood Coagulation and Fibrionolysis 2007; 18:489-95. doi: 10.1097/MBC.0b013e3281eec930.
  • Joseph T, Kusumakkumary P, Chacko P, et al. Genetic polymorphism of CYP1A1, CYP 2D6, GSTM1and GSTT1 and susceptibility to acute lymphoblasticleukaemia in Indian children. Pediatric Blood Cancer 2004; 43:560 – 67. doi: 10.1002/pbc.20074.
  • Krajinovic M, Labuda D, Richer C, et al. Susceptibility to childhood acute lymphoblastic leukemia: ınfluence of CYP1A1, CYP2D6, GSTM1, and GSTT1 genetic polymorphisms. Blood 1999; 93: 1496-501.
  • Marsh JCW, Choudry J, Parry-Jones N, et al. Study of the association between cytochromes P450 2D6 and 2E1 genotypes and the risk of drug and chemical induced idiosyncratic aplastic anaemia. Br J Haematol 1999; 104:266-70.
  • Zanger UM, Raimundo S, Eichelbaum M. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemisry. Naunyn Schmiedebergs Arch Pharmacol 2004; 369:23-37. doi: 10.1007/s00210-003-0832-2.
  • Alvan G, Bechtel P, Iselius L, et al. Hydroxylation polymorphisms of debrisoquine and mephenytoin in European populations. Eur J Clin Pharmacol 1990; 39:533-7.
  • Aydin M, Hatirnaz O, Erensoy N, et al. CYP 2D6 and CYP1A1 mutations in the Turkish population.Cell Biochem Funct 2005; 23:133-5. doi: 10.1002/cbf.1222.
  • Koseler A, Ilcol YO, Ulus IH. Frequency of mutated allele CYP 2D6* 4 in the Turkish population. Pharmacology 2007; 79:203-06. doi: 10.1159/000100959.
  • Aynacıoğlu AS, Sachse C, Bozkurt A. Low frequency of defective alleles of cytochrome P450 enzymes 2C19 and 2D6 in the Turkish population. Clin Pharmacol Ther 1999; 66: 185-92. doi: 10.1053/cp.1999.v66.100072001.
  • Sahin S, Aydogan L, Benli I, et al. Distribution of HLA-B27 and CYP 2D6* 4 mutations in the middle Black Sea area (Tokat) of Turkey. Genetics and Molecular Research 2011 10:3987-91. doi: 10.4238/2011.December.2.3
  • Hardy GH. Mendelian proportions in a mixed population. Science 1908; 28:49-50. doi: 10.1126/science.28.706.49
  • Rodriguez S, Gaunt TR, Day IN. Hardy–Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol 2009; 169:505-14. doi: 10.1093/aje/kwn359.
  • Anderson LA, Duncombe AS, Hughes M, et al. Environmental, lifestyle, and familial/ethnic factors associated with myeloproliferative neoplasms. Am J Hematol 2012 ;87:175-82. doi: 10.1002/ajh.22212.
  • Ozawa S. Drug-Drug Interactions with consideration of pharmacogenetics. Yakugaku zasshi Journal of the Pharmaceutical Society of Japan. 2018;138:365-71. doi: 10.1248/yakushi.17-00191-5.
  • Thota K, Prasad K, Basaveswara Rao MV. Detection of cytochrome P450 polymorphisms in breast cancer patients may ımpact on tamoxifen therapy. Asian Pac J Cancer Prev 2018 26;19:343-50. doi: 10.22034/APJCP.2018.19.2.343.
Marmara Medical Journal-Cover
  • ISSN: 1019-1941
  • Yayın Aralığı: Yılda 3 Sayı
  • Başlangıç: 1988
  • Yayıncı: Marmara Üniversitesi
Sayıdaki Diğer Makaleler

Erişkinlerde obezite ve tiroid fonksiyonu arasındaki ilişki

Ferhat EKİNCİ, Demet MERDER COŞKUN, Bilge TUNÇEL, Dinçer ATİLA, Bekir Hüseyin YILDIZ, Arzu UZUNER

Görsel kalitatif difüzyon-ağırlıklı görüntüleme incelemesi, açık difüzyon katsayısı kantifikasyonu ve Ki-67 proliferasyon indeksinin cerrahi meningiomlarda atipi tahminindeki yeri

Özlem YAPICIER, Baran YILMAZ, Süleyman ŞENER, Teyyub HASANAOV, Akin AKAKIN, Mustafa Kemal DEMIR

Görsel kalitatif DW görüntüleme, ADC kantifikasyonu ve Ki-67 proliferasyon indeksinin referans

Baran YİLMAZ, Süleyman SENER, Hasanaov TEYYUB, Akın AKAKIN, Özlem YAPICIER, Mustafa Kemal DEMİR

Over kanserinde intraperitoneal kemoterapi esnasında gelişen katater ilişkili komplikasyonların yönetimi: İki olgu sunumu ve literatür derlemesi

Günsu KİMYON CÖMERT, Osman TÜRKMEN, Alper KARALOK, Derman BAŞARAN, Çiğdem TORUN KILIÇ, Sevgi KOÇ, Fulya KAYIKÇIOĞLU, Nurettin BORAN

Keton cisimlerinin insan meme kanseri hücrelerinde (MCF-7) canlılık üzerine etkileri

Zuhal KAYA, Ayse Mine YILMAZ, A. Suha YALÇIN

Memenin nodüler müsinözü: nadir bir antite

Andaç SALMAN, Leyla CİNEL, Hüseyin Kemal TÜRKÖZ, Gamze AKBAŞ, Tülin ERGÜN

Türk popülasyonunda Polisitemia vera hastalarında CYP 2D6*4 polimorfizmi

Zehra OKAT, Kezban UÇAR ÇİFTÇİ, Kübra YAMA, Selina TOPLAYICI, Elif KURT, Yavuz TAGA

Visual qualitative evaluation of diffusion-weighted imaging, apparent diffusion coefficient quantification and Ki-67 proliferation index for predicting atypia in surgical meningiomas

Şafak Yılmaz BARAN, Süleyman ŞENER, Teyyub HASANAOV, Akin AKAKIN, Özlem YAPICIER ŞAHAN, Mustafa Kemal DEMIR

Mide kanseri tedavisinden 8 yıl sonra gelişen Krukenberg tümörü olgusu

Servet KARAGÜL, Fatih SÜMER, asım ONUR, Ali TARDU, Adile Ferda DAĞLI, Cüneyt KAYAALP