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Article

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

1
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
2
Internal Medicine Department, School of Medicine and Health Sciences, Hospital Universitario Mayor-Méderi, Universidad del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia
3
Biopas Laboratoires, Orphan Diseases Unit, BIOPAS GROUP, 111111 Bogotá, Colombia
*
Author to whom correspondence should be addressed.
Academic Editor: Luis A. López-Fernández
J. Pers. Med. 2021, 11(5), 400; https://doi.org/10.3390/jpm11050400
Received: 14 March 2021 / Revised: 20 April 2021 / Accepted: 22 April 2021 / Published: 12 May 2021
(This article belongs to the Special Issue Pharmacogenetics to Avoid Adverse Drug Reactions)
Clopidogrel, an oral platelet P2Y12 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. View Full-Text
Keywords: platelet reactivity; single-nucleotide variants; pharmacogenetics; acute coronary syndrome; clopidogrel; genotype; allele; polymorphism platelet reactivity; single-nucleotide variants; pharmacogenetics; acute coronary syndrome; clopidogrel; genotype; allele; polymorphism
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MDPI and ACS Style

Angulo-Aguado, M.; Panche, K.; Tamayo-Agudelo, C.A.; Ruiz-Torres, D.-A.; Sambracos-Parrado, S.; Niño-Orrego, M.J.; Páez, N.; Piñeros-Hernandez, L.B.; Castillo-León, L.-F.; Pardo-Oviedo, J.M.; Abaunza, K.P.; Laissue, P.; Contreras, N.; Calderón-Ospina, C.A.; Fonseca-Mendoza, D.J. A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy. J. Pers. Med. 2021, 11, 400. https://doi.org/10.3390/jpm11050400

AMA Style

Angulo-Aguado M, Panche K, Tamayo-Agudelo CA, Ruiz-Torres D-A, Sambracos-Parrado S, Niño-Orrego MJ, Páez N, Piñeros-Hernandez LB, Castillo-León L-F, Pardo-Oviedo JM, Abaunza KP, Laissue P, Contreras N, Calderón-Ospina CA, Fonseca-Mendoza DJ. A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy. Journal of Personalized Medicine. 2021; 11(5):400. https://doi.org/10.3390/jpm11050400

Chicago/Turabian Style

Angulo-Aguado, Mariana, Karen Panche, Caroll A. Tamayo-Agudelo, Daniel-Armando Ruiz-Torres, Santiago Sambracos-Parrado, Maria J. Niño-Orrego, Nathaly Páez, Laura B. Piñeros-Hernandez, Luisa-Fernanda Castillo-León, Juan M. Pardo-Oviedo, Katherine P. Abaunza, Paul Laissue, Nora Contreras, Carlos A. Calderón-Ospina, and Dora J. Fonseca-Mendoza 2021. "A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy" Journal of Personalized Medicine 11, no. 5: 400. https://doi.org/10.3390/jpm11050400

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