Kagambèga Yves Donald, Ouattara Abdoul Karim, Ouédraogo Teega-Wendé Clarisse, Traoré Lassina, Yaméogo Nobila Valentin, Simpore Jacques
Biological Sciences, Université Norbert Zongo/ Centre Universitaire de Manga, Koudougou, Burkina Faso.
Biochimie Microbiologie, Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE) - Université Joseph KI-ZERBO, Ouagadougou, Burkina Faso.
Appl Clin Genet. 2025 May 1;18:55-61. doi: 10.2147/TACG.S509095. eCollection 2025.
The hepatic cytochrome P450 2C19 (CYP2C19) superfamily plays a crucial role in converting clopidogrel into its active form. Polymorphisms in significantly contribute to the interindividual variability observed, often resulting in persistent thromboembolic complications. This study aimed to assess the frequency of the (, 681 G>A1) polymorphism among patients with cardiovascular diseases undergoing clopidogrel therapy.
This cross-sectional study recruited a total of seventy-three (73) patients from the Cardiology Department of the Centre Hospitalier Universitaire Yalgado Ouédraogo (CHU-YO) between January and June 2023. DNA was extracted from blood samples for genotyping using PCR-RFLP.
Genetic analysis revealed frequencies of 65.8% for the wild-type CYP2C19*1/1, 28.8% for the heterozygous CYP2C191/2, and 2.7% for the homozygous variant CYP2C192/*2. The distribution of the genotypic frequencies was consistent with Hardy-Weinberg equilibrium (p> 0.05). The overall frequency of the allele in the study population was 16.4%, with 12.5% observed in females and 19.5% in males.
This study provides valuable insights into the frequency of the CYP2C19*2 polymorphism among cardiovascular patients in Burkina Faso, contributing to the limited data available on polymorphisms in sub-Saharan Africa. The presence of loss-of-function alleles suggests a potential risk for reduced drug efficacy in a subset of individuals. As one of the pioneering studies in the region, these findings emphasize the importance of further research to understand the clinical implications of polymorphisms.
肝脏细胞色素P450 2C19(CYP2C19)超家族在将氯吡格雷转化为其活性形式中起关键作用。该基因的多态性显著导致了个体间观察到的变异性,常导致持续性血栓栓塞并发症。本研究旨在评估接受氯吡格雷治疗的心血管疾病患者中CYP2C19*2(681G>A1)多态性的频率。
这项横断面研究于2023年1月至6月期间从亚尔加杜·韦德拉奥果大学中心医院(CHU-YO)心脏病科招募了总共73名患者。从血样中提取DNA,使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行基因分型。
基因分析显示,野生型CYP2C19*1/1的频率为65.8%,杂合型CYP2C191/2的频率为28.8%,纯合变异型CYP2C192/2的频率为2.7%。基因型频率分布符合哈迪-温伯格平衡(p>0.05)。研究人群中CYP2C192等位基因的总体频率为16.4%,女性中观察到的频率为12.5%,男性中为19.5%。
本研究为布基纳法索心血管疾病患者中CYP2C19*2多态性的频率提供了有价值的见解,有助于补充撒哈拉以南非洲地区关于该多态性的有限数据。功能丧失等位基因的存在表明一部分个体存在药物疗效降低的潜在风险。作为该地区的开创性研究之一,这些发现强调了进一步研究以了解该多态性临床意义的重要性。