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

J 2009

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

FLODROVÁ, Eva, Jan JUŘICA, Richard BARTEČEK, Renata GAILLYOVÁ, Alexandra ŽOURKOVÁ et. al.

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

Změněno: 25. 1. 2010 10:34, doc. PharmDr. Jan Juřica, Ph.D.

Anotace

V originále

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)

Citovat

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.

@article{834928,
   author = {Flodrová, Eva and Juřica, Jan and Barteček, Richard and Gaillyová, Renata and Žourková, Alexandra},
   article_location = {London},
   article_number = {17 Supp2},
   issn = {1018-4813},
   journal = {European Journal of Human Genetics},
   title = {Molecular genetic identification of the major CYP2D6 alleles and utilization in psychiatric treatment of depression},
   volume = {2009},
   year = {2009}
}

TY  - JOUR
ID  - 834928
AU  - Flodrová, Eva - Juřica, Jan - Barteček, Richard - Gaillyová, Renata - Žourková, Alexandra
PY  - 2009
TI  - Molecular genetic identification of the major CYP2D6 alleles and utilization in psychiatric treatment of depression
JF  - European Journal of Human Genetics
VL  - 2009
IS  - 17 Supp2
SP  - 221
EP  - 221
PB  - NATURE PUBLISHING GROUP
SN  - 10184813
N2  - 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)
ER  -

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. \textit{European Journal of Human Genetics}. London: NATURE PUBLISHING GROUP, 2009, roč.~2009, 17 Supp2, s.~221. ISSN~1018-4813.

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