title: The CYP4502D6 *4 and *6 alleles are the molecular genetic markers for drug response: implications in colchicine non-responder FMF patients.
abstract: The cytochrome P450 2D6 (CYP2D6) is a cytochrome P450 enzyme involved in the oxidative biotransformation of the xenobiotics, carcinogens and various clinically important drugs. Patients are evaluated in three sub-groups of extensive (EM), intermediate (IM) and poor metabolizer (PM) phenotypes due to their drug-metabolising ability for the target CYP2D6 gene. Colchicine non-responsive FMF patients were prospectively genotyped for the major CYP2D6 alleles in the current study. Major CYP2D6 alleles of *1, *3, *4, *5, and *6 were genotyped for 30 responsive and 60 non-responsive FMF patients by multiplex PCR-based reverse-hybridization StripAssay and real-time PCR methods. DNA banks isolated from blood-EDTA were retrospectively used in the current patients and results were compared statistically. Increased CYP2D6 *4 and *6 allele frequencies were highly detected in the colchicine non-responsive FMF patients when compared to the responsive group. Results showed the frequencies of major CYP2D6 *1(wild), *3(2637A > delA), *4(G1934A), *5(total gene deletion) and *6(1707T del) alleles in 0.550, 0.042, 0.158, 0.025 and 0.225 for non-responder and 0.880 and 0.120 (CYP2D6*1 and *4) for the responder groups, respectively. Despite small sample size, this study suggests that there is an association between CYP2D6*4 and CYP2D6*6 alleles and drug intoxicants in colchicine non-responder FMF patients.
authors: Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, 17100, Canakkale, Turkey.|Department of Medical Genetics, Adana Numune Education and Research Hospital, Adana, Turkey.
authors: Sinem
authors: S
authors: Yalcıntepe
authors: Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, 17100, Canakkale, Turkey. ozdemir615@yahoo.com.|Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey. ozdemir615@yahoo.com.
authors: Ozturk
authors: O
authors: Ozdemır
authors: Department of Pharmacology, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.
authors: Coskun
authors: C
authors: Sılan
authors: Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
authors: Filiz
authors: F
authors: Ozen
authors: Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, 17100, Canakkale, Turkey.
authors: Ahmet
authors: A
authors: Uludag
authors: Department of Nephrology, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
authors: Ferhan
authors: F
authors: Candan
authors: Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, 17100, Canakkale, Turkey.
authors: Fatma
authors: F
authors: Sılan
mesh_terms: D000483:Alleles; D001711:Biotransformation / Q000235:genetics; D003078:Colchicine / Q000627:therapeutic use*; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D011446:Prospective Studies; D012189:Retrospective Studies
chemical_list: D005819:Genetic Markers; D019389:Cytochrome P-450 CYP2D6; D003078:Colchicine
keywords: CYP2D6 polymorphism; Colchicine resistance; FMF; Pharmacogenetics
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