Molecular genetic identification of the major CYP2D6 alleles and utilization in psychiatric treatment of depression

FLODROVÁ, Eva, Jan JUŘICA, Richard BARTEČEK, Renata GAILLYOVÁ a Alexandra ŽOURKOVÁ. Molecular genetic identification of the major CYP2D6 alleles and utilization in psychiatric treatment of depression. European Journal of Human Genetics. London: NATURE PUBLISHING GROUP, 2009, roč. 2009, 17 Supp2, s. 221. ISSN 1018-4813.

Základní údaje

• Originální název: Molecular genetic identification of the major CYP2D6 alleles and utilization in psychiatric treatment of depression
• Název česky: Molekulárně genetická identifikace alel CYP2D6 a její využití v léčbě deprese
• Název anglicky: Molecular genetic identification of the major CYP2D6 alleles and utilization in psychiatric treatment of depression
• Autoři: FLODROVÁ, Eva, Jan JUŘICA, Richard BARTEČEK, Renata GAILLYOVÁ a Alexandra ŽOURKOVÁ.
• Vydání: European Journal of Human Genetics, London, NATURE PUBLISHING GROUP, 2009, 1018-4813.

Další údaje

• Typ výsledku: Článek v odborném periodiku
• Utajení: není předmětem státního či obchodního tajemství
• Impakt faktor: Impact factor: 3.564
• Organizační jednotka: Lékařská fakulta
• UT WoS: 000258855500442
• Příznaky: Mezinárodní význam

Anotace

The gene CYP2D6 encodes enzyme involved in biotransformation of psychotropics in psychiatric treatment. The Caucasian population has been grouped in according to the enzymatic activity as poor, intermediate, effective and ultrarapid metabolizers. The determination of metabolic activity prior the dose adjustment could be really useful in some cases. The methodical approach of genotyping is based on long PCR and subsequent sequencing. These standard methods are combinated with RealTimePCR and High Resolution Melting analysis (HRM) using Light Cycler 480 System. Recently is possible to detect the most frequent null alleles 3* 4* 6* 7* and 8*. Allele 5* could be detected by using agarose electrophoresis or UPL probes. HRM analysis has been performed for the most frequent SNPs in CYP2D6 gene as a fast cheap and reliable method for pre-genotyping. O-demethylation of dextromethorfan was used for metabolic activity assesment. The concentrations of marker and metabolite in the urine were determined by HPLC assay. The phenotypes PM and EM were distinguished by using 0,3 antimode. The clinical data were analyzed and compared with genotype and phenotype result. This paper provides an overview of current technologies available for CYP2D6 genotype and phenotype testing and the result of testing of the group of 91 patients, treated with Paroxetine. The effect of Paroxetine treatment on CYP2D6 is summarized in Table 1. Supported by research project MSM 0021622404 (2005 - 2011)