A simple allele-specific polymerase chain reaction method to detect the Gly143Glu polymorphism in the human carboxylesterase 1 gene: importance of genotyping for pharmacogenetic treatment

Soria, Néstor Walter ORCID: https://orcid.org/0000-0002-8232-1822, Belaus, Andrea, Galván, Cristian Ariel ORCID: https://orcid.org/0000-0002-1885-3664, Pasquali, María Ana, Vélez, Pablo, Montes, Cecilia del Carmen and Beltramo, Dante Miguel ORCID: https://orcid.org/0000-0002-8198-3525 (2010) A simple allele-specific polymerase chain reaction method to detect the Gly143Glu polymorphism in the human carboxylesterase 1 gene: importance of genotyping for pharmacogenetic treatment. Genetic Testing and Molecular Biomarkers, 14 (6). pp. 749-751. ISSN 19450257

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Resumen

Human carboxylesterases 1 and 2 (CES1 and CES2) catalyze the hydrolysis of many exogenous compounds. Alterations in CES sequences could lead to variability in both the inactivation of drugs and the activation of prodrugs. The human CES1 gene encodes for the enzyme carboxylesterase 1, a serine esterase governing both metabolic deactivation and activation of numerous therapeutic agents. Some of theses drugs are the antiviral oseltamivir used to treat some types of influenza infections and the methylphenidate employed in the treatment of patients with attention deficit. The Gly143Glu polymorphism in CES1 gene has been shown to reduce enzyme activity. The aim of the present study was to develop an easy and cheap method to detect this polymorphism. For this, we studied a group of people from Córdoba, a Mediterranean area from Argentina. Our results show that our methodology could detect the presence of this polymorphism with a frequency around 1.8%, only in the heterozygote form. These results could be relevant to patients before the treatment with some drugs where the CES1 enzyme is involved.

Tipo de documento:	Artículo
DOI:	https://doi.org/10.1089/gtmb.2010.0037
Palabras clave:	Adolescent. Adult. Aged. Aged, 80 and over. Alleles. Amino Acid Substitution. Antiviral Agents. Attention Deficit Disorder with Hyperactivity. Carboxylic Ester Hydrolases. Central Nervous System Stimulants.
Temas:	Q Ciencia > QD Química
Unidad académica:	Universidad Católica de Córdoba > Facultad de Ciencias Químicas
Google Académico:	Ver citaciones
URI:	http://pa.bibdigital.ucc.edu.ar/id/eprint/4965

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