A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy.

Autor:	Angulo-Aguado M; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Panche K; Internal Medicine Department, School of Medicine and Health Sciences, Hospital Universitario Mayor-Méderi, Universidad del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Tamayo-Agudelo CA; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Ruiz-Torres DA; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Sambracos-Parrado S; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Niño-Orrego MJ; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Páez N; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Piñeros-Hernandez LB; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Castillo-León LF; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Pardo-Oviedo JM; Internal Medicine Department, School of Medicine and Health Sciences, Hospital Universitario Mayor-Méderi, Universidad del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Abaunza KP; Internal Medicine Department, School of Medicine and Health Sciences, Hospital Universitario Mayor-Méderi, Universidad del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Laissue P; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia.; Biopas Laboratoires, Orphan Diseases Unit, BIOPAS GROUP, 111111 Bogotá, Colombia., Contreras N; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Calderón-Ospina CA; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia., Fonseca-Mendoza DJ; Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia.
Jazyk:	angličtina
Zdroj:	Journal of personalized medicine [J Pers Med] 2021 May 12; Vol. 11 (5). Date of Electronic Publication: 2021 May 12.
DOI:	10.3390/jpm11050400
Abstrakt:	Clopidogrel, an oral platelet P2Y 12 receptor blocker, is used in the treatment of acute coronary syndrome. Interindividual variability in treatment response and the occurrence of adverse effects has been attributed to genetic variants in CYP2C19 . The analysis of relevant pharmacogenes in ethnically heterogeneous and poorly studied populations contributes to the implementation of personalized medicine. We analyzed the coding and regulatory regions of CYP2C19 in 166 patients with acute coronary syndrome (ACS) treated with clopidogrel. The allele frequencies of CYP2C19 alleles *1, *2, *4, *17, *27 and *33 alleles were 86.1%, 7.2%, 0.3%, 10.2%, 0.3% and 0.3%, respectively. A new potentially pathogenic mutation (p.L15H) and five intronic variants with potential splicing effects were detected. In 14.4% of the patients, a new haplotype in strong linkage disequilibrium was identified. The clinical outcome indicated that 13.5% of the patients presented adverse drugs reactions with a predominance of bleeding while 25% of these patients were carriers of at least one polymorphic allele. We propose that new regulatory single-nucleotide variants (SNVs) might potentially influence the response to clopidogrel in Colombian individuals.
Databáze:	MEDLINE
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