TY - JOUR
T1 - A pharmacogenetic study of cyp2c19 in acute coronary syndrome patients of colombian origin reveals new polymorphisms potentially related to clopidogrel therapy
T2 - Estudio farmacogenético de cyp2c19 en pacientes con síndrome coronario agudo de origen colombiano revela nuevos polimorfismos potencialmente relacionados con la terapia con clopidogrel
AU - Angulo-Aguado, Mariana
AU - Panche, Karen
AU - Tamayo-Agudelo, Caroll Andrea
AU - Ruiz-Torres, Daniel Armando
AU - Sambracos-Parrado, Santiago
AU - Niño-Orrego, Maria Jose
AU - Páez, Nathaly
AU - Piñeros-Hernandez, Laura B.
AU - Castillo-León, Luisa Fernanda
AU - Pardo-Oviedo, Juan Mauricio
AU - Abaunza, Katherine Parra
AU - Laissue, Paul
AU - Contreras, Nora
AU - Calderón-Ospina, Carlos Alberto
AU - Fonseca-Mendoza, Dora Janeth
N1 - Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2021/5/12
Y1 - 2021/5/12
N2 - 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.
AB - 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.
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UR - https://www.mdpi.com/2075-4426/11/5/400
U2 - 10.3390/jpm11050400
DO - 10.3390/jpm11050400
M3 - Article
C2 - 34065778
AN - SCOPUS:85106951601
SN - 2075-4426
VL - 11
SP - 1
EP - 15
JO - Journal of Personalized Medicine
JF - Journal of Personalized Medicine
IS - 5
M1 - 5
ER -