Angulo-Aguado Mariana, Panche Karen, Tamayo-Agudelo Caroll Andrea, Ruiz-Torres Daniel-Armando, Sambracos-Parrado Santiago, Niño-Orrego Maria Jose, Páez Nathaly, Piñeros-Hernandez Laura B, Castillo-León Luisa-Fernanda, Pardo-Oviedo Juan Mauricio, Abaunza Katherine Parra, Laissue Paul, Contreras Nora, Calderón-Ospina Carlos Alberto, Fonseca-Mendoza Dora Janeth
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.
Internal Medicine Department, School of Medicine and Health Sciences, Hospital Universitario Mayor-Méderi, Universidad del Rosario, Carrera 24 N° 63C-69, 112111 Bogotá, Colombia.
J Pers Med. 2021 May 12;11(5):400. doi: 10.3390/jpm11050400.
Clopidogrel, an oral platelet P2Y 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 . 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 in 166 patients with acute coronary syndrome (ACS) treated with clopidogrel. The allele frequencies of *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.
氯吡格雷是一种口服血小板P2Y受体阻滞剂，用于治疗急性冠状动脉综合征。治疗反应的个体差异和不良反应的发生归因于……中的基因变异。在种族异质性且研究较少的人群中分析相关药物基因有助于个性化医疗的实施。我们分析了166例接受氯吡格雷治疗的急性冠状动脉综合征（ACS）患者中……的编码区和调控区。*1、*2、*4、*17、27和33等位基因的等位基因频率分别为86.1%、7.2%、0.3%、10.2%、0.3%和0.3%。检测到一个新的潜在致病突变（p.L15H）和五个具有潜在剪接效应的内含子变异。在14.4%的患者中，鉴定出一种处于强连锁不平衡的新单倍型。临床结果表明，13.5%的患者出现药物不良反应，以出血为主，其中25%的患者是至少一个多态性等位基因的携带者。我们提出，新的调控单核苷酸变异（SNV）可能会影响哥伦比亚个体对氯吡格雷的反应。
