The frequencies of mutated alleles of CYP2D6 gene in a Turkish population

Forensic Science International

Volumn 222, Issue 1-3, 2012, Pages 332-334

  Serin, A ^a   Canan, H ^a   Alper, B ^a   Gulmen , M ^a  

^a CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

CYP2D6; Genetic polymorphism; TaqMan Real Time PCR; Turkish

Indexed keywords

CYTOCHROME P450 2D6;

ALLELE; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; COPY NUMBER VARIATION; CYP2D6 GENE; DRUG INTOXICATION; ETHNIC GROUP; EUROPEAN; FORENSIC GENETICS; GENE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN EXPERIMENT; NORMAL HUMAN; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; TURKISH;

EID: 84865622456     PISSN: 03790738     EISSN: 18726283     Source Type: Journal    
DOI: 10.1016/j.forsciint.2012.07.012     Document Type: Article

References (35)

1. Kimura S., Umeno M., Skoda R.C., Meyert U.A., Gonzalez F.J. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am. J. Hum. Genet. 1989, 45:889-904.
2. Zanger U.M., Raimundo S., Eichelbaum M. Cytochrome P450 2D6: overview and updateon pharmacology, genetics, biochemistry. Naunyn Schmiedeberg's Arch. Pharmacol. 2004, 369:23-37.
3. Ingelman-Sundberg M. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics. J. 2005, 5:6-13.
4. http://www.cypalleles.ki.se/cyp2d6.htm.
5. Lovlie R., Daly K., Molven A., Idle J.R., Steen V.M. Ultra rapid metabolizers of debrisoquine" characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene. FEBS Lett. 1996, 392:30-34.
6. Lundqvist E., Johansson I., Ingelman-Sundberg M. Genetic mechanisms for duplication and multiduplication of the human CYP2D6 gene and methods for detection of duplicated CYP2D6 genes. Gene 1999, 226:327-338.
7. Koski A., Sistonen J., Ojanpera I., Gergov M., Vuori E., Sajantila A. CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies. Forensic Sci. Int. 2006, 158:177-183.
8. Janetto P.J., Wong S.H., Gock S.B., Laleli-Sahin E., Schur B.C., Jentzen J.M. Pharmacogenomics as molecular autopsy for postmortem forensic toxicology: genotyping cytochrome P450 2D6 for oxycodone cases. J. Anal. Toxicol. 2002, 26(7):438-447.
9. Neafsey P., Ginsberg G., Hattis D., Sonawane B. Genetic polymorphism in cytochrome P450 2D6 (CYP2D6): population distribution of cyp2d6 activity. J. Toxicol. Environ. Health B 2009, 12:334-361.
10. Sistonen J., Sajantila A., Lao O., Corander J., Barbujani G., Fuselli S. CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet. Genomics 2007, 17:93-101.
11. Sistonen J., Fuselli S., Paloa J.U., Chauhanc N., Padhc H., Sajantila A. Pharmacogenetic variation at CYP2C9, CYP2C19, and CYP2D6 at global and microgeographic scales. Pharmacogenet. Genomics 2009, 19:170-179.
12. Chiurillo M.A., Grima ón P., Moraón Y., Camargo M.E., Rami{dotless}órez J.L. Analysis of CYP2D6 gene variation in Venezuelan population: implications for forensic toxicology. Forensic Sci. Int.: Genet. Suppl. Ser. 2009, 2(1):407-408.
13. *4 in the Turkish population. Pharmacology 2007, 79:203-206.
14. Aynacioglu A.S., Sachse C., Bozkurt A., Kortunay S., Nacak M., Shroder T., et al. Low frequency of defective alleles of cytochrome P450 enzymes 2C19 and 2D6 in the Turkish population. Clin. Pharmacol. Ther. 1999, 66:185-192.
15. Aydin M., Hatirnaz O., Erensoy N., Ozbek U. CYP2D6 and CYP1A1 mutations in the Turkish population. Cell Biochem. Funct. 2005, 23:133-135.
16. Bozkurt A., Basci N.E., Isimer A., Sayal A., Kayaalp S.O. Polymorphic debrisoquine metabolism in a Turkish population. Clin. Pharmacol. Ther. 1994, 55:399-401.
17. *4 in the Turkish ankylosing spondylitis patients and healthy controls. Rheumotol. Int. 2009, 29:1431-1434.
18. Sistonen J., Fuselli S., Levo A., Sajantila A. CYP2D6 genotyping by a multiplex primer extension reaction. Clin. Chem. 2005, 51(7):1291-1296.
19. Lindpaintner K. Pharmacogenetics and the future of medical practice. Br. J. Clin. Pharmacol. 2002, 54:221-230.
20. Koski A., Ojanpera I., Sistonen J., Vuori E., Sajantila A. A fatal doxepin poisoning associated with a defective CYP2D6 genotype. Am. J. Forensic Med. Pathol. 2007, 28(3):259-261.
21. Gronewold A., Dettling A., Haffner H.T., Skopp G. Doxepin and nordoxepin concentrations in body fluids and tissues in doxepin associated deaths. Forensic Sci. Int. 2009, 190:74-79.
22. Ferreirós N., Dresen S., Hermanns-Clausen M., Auwaerter V., Thierauf A., Müller C., Hentschel R., Trittler R., Skopp G., Weinmann W. Fatal and severe codeine intoxication in 3-year-old twins - interpretation of drug and metabolite concentrations. Int. J. Legal. Med. 2009, 123:387-394.
23. Bailey B., Daneman R., Daneman N., Mayer J.M., Koren G. Discrepancy between CYP2D6 phenotype and genotype derived from post-mortem dextromethorphan blood level. Forensic Sci. Int. 2000, 110:61-70.
24. Thieme D., Rolf B., Sachs H., Schmid D. Correlation of inter-individual variations of amitriptyline metabolism examined in hairs with CYP2C19 and CYP2D6 polymorphisms. Int. J. Legal. Med. 2008, 122:149-155.
25. Druid H., Holmgren P., Carlsson B., Ahlner J. Cytochrome P450 2D6 (CYP2D6) genotyping on postmortem blood as a supplementary tool for interpretation of forensic toxicological results. Forensic Sci. Int. 1999, 99:25-34.
26. Levo A., Koski A., Ojanpera I., Vuori E., Sajantila A. Post-mortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood. Forensic Sci. Int. 2003, 135:9-15.
27. Sallee F.R., DeVane C.L., Ferrel R.E. Fluoxetin- related death in a child with cytochrome P450 2D6 genetic deficiency. J. Child Adol. Psychopharmacol. 2000, 10:27-34.
28. TaqMan drug metabolism genotyping assay protocol, Applied Biosystems.
29. TaqMan copy number assay protocol, Applied Biosystems.
30. Copy caller software, Applied Biosystems.
31. *36 with poor metabolizer status. Drug Metab. Dispos. 2006, 34:563-569.
32. *5 allele by multiplex long PCR. Clin. Chem. 2000, 46(8):1072-1077.
33. *14 allele in Mainland Chinene. Clin. Chem. 2002, 48(7):983-988.
34. Schaeffeler E., Schwab M., Eichelbaum M. Zanger UM.CYP2D6 genotyping strategy based on gene copy number determination by TaqMan Real-Time PCR. Hum. Mutat. 2003, 22:476-485.
35. Sachse C., Brockmöller J., Bauer S., Roots I. Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am. J. Hum. Genet. 1997, 60(2):284-295.