Montreal Heart Institute, Université de Montréal, Montreal, Canada.
Montreal Heart Institute, Université de Montréal, Montreal, Canada; University of Montreal Beaulieu-Saucier Pharmacogenomics Center.
Am Heart J. 2020 Apr;222:157-165. doi: 10.1016/j.ahj.2020.01.007. Epub 2020 Jan 17.
The objectives of precision medicine are to better match patient characteristics with the therapeutic intervention to optimize the chances of beneficial actions while reducing the exposure to unneeded adverse drug experiences. In a retrospective genome-wide association study of the overall neutral placebo-controlled dal-Outcomes trial, the effect of the cholesteryl ester transfer protein (CETP) modulator dalcetrapib on the composite of cardiovascular death, myocardial infarction or stroke was found to be influenced by a polymorphism in the adenylate cyclase type 9 (ADCY9) gene. Whereas patients with the AA genotype at position rs1967309 experienced fewer cardiovascular events with dalcetrapib, those with the GG genotype had an increased rate and the heterozygous AG genotype exhibited no difference from placebo. Measurements of cholesterol efflux and C-reactive protein (CRP) offered directionally supportive genotype-specific findings. In a separate, smaller, placebo-controlled trial, regression of ultrasonography-determined carotid intimal-medial thickness was only observed in dalcetrapib-treated patients with the AA genotype. Collectively, these observations led to the hypothesis that the cardiovascular effects of dalcetrapib may be pharmacogenetically determined, with a favorable benefit-risk ratio only for patients with this specific genotype. We describe below the design of dal-GenE, a precision medicine, placebo-controlled clinical outcome trial of dalcetrapib in patients with a recent acute myocardial infarction with the unique feature of selecting only those with the AA genotype at rs1967309 in the ADCY9 gene.
精准医学的目标是更好地将患者特征与治疗干预相匹配,以优化有益作用的机会,同时减少不必要的药物不良反应的暴露。在一项针对整体中性安慰剂对照 dal-Outcomes 试验的全基因组关联研究的回顾性研究中,发现胆固醇酯转移蛋白 (CETP) 调节剂 dalcetrapib 对心血管死亡、心肌梗死或中风复合事件的影响受到腺嘌呤核苷酸环化酶 9 (ADCY9) 基因中一个多态性的影响。在 rs1967309 位置具有 AA 基因型的患者接受 dalcetrapib 治疗后心血管事件较少,而具有 GG 基因型的患者心血管事件发生率增加,杂合 AG 基因型与安慰剂无差异。胆固醇外排和 C 反应蛋白 (CRP) 的测量结果提供了与基因型特异性发现方向一致的结果。在一项单独的、规模较小的安慰剂对照试验中,仅在具有 AA 基因型的 dalcetrapib 治疗患者中观察到超声确定的颈动脉内膜中层厚度的消退。总的来说,这些观察结果导致了这样的假设,即 dalcetrapib 的心血管作用可能是由药物遗传学决定的,只有具有这种特定基因型的患者才具有有利的风险效益比。我们在下面描述了 dal-GenE 的设计,这是一项针对具有近期急性心肌梗死的患者的精准医学、安慰剂对照的临床结局试验,其独特之处在于仅选择 ADCY9 基因中 rs1967309 具有 AA 基因型的患者。