来自两项大型全球心血管结局试验的基线风险因素、药效学、疗效和耐受性终点的达拉匹林药物遗传学荟萃分析。
Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.
作者信息
Yeo Astrid, Li Li, Warren Liling, Aponte Jennifer, Fraser Dana, King Karen, Johansson Kelley, Barnes Allison, MacPhee Colin, Davies Richard, Chissoe Stephanie, Tarka Elizabeth, O'Donoghue Michelle L, White Harvey D, Wallentin Lars, Waterworth Dawn
机构信息
Department of Genetics, GlaxoSmithKline Medicines Research Centre, Stevenage, Hertfordshire, United Kingdom.
Department of Genetics, GlaxoSmithKline Medicines Research Centre, Research Triangle Park, North Carolina, United States of America.
出版信息
PLoS One. 2017 Jul 28;12(7):e0182115. doi: 10.1371/journal.pone.0182115. eCollection 2017.
Darapladib, a lipoprotein-associated phospholipase A2 (Lp-PLA2) inhibitor, failed to demonstrate efficacy for the primary endpoints in two large phase III cardiovascular outcomes trials, one in stable coronary heart disease patients (STABILITY) and one in acute coronary syndrome (SOLID-TIMI 52). No major safety signals were observed but tolerability issues of diarrhea and odor were common (up to 13%). We hypothesized that genetic variants associated with Lp-PLA2 activity may influence efficacy and tolerability and therefore performed a comprehensive pharmacogenetic analysis of both trials. We genotyped patients within the STABILITY and SOLID-TIMI 52 trials who provided a DNA sample and consent (n = 13,577 and 10,404 respectively, representing 86% and 82% of the trial participants) using genome-wide arrays with exome content and performed imputation using a 1000 Genomes reference panel. We investigated baseline and change from baseline in Lp-PLA2 activity, two efficacy endpoints (major coronary events and myocardial infarction) as well as tolerability parameters at genome-wide and candidate gene level using a meta-analytic approach. We replicated associations of published loci on baseline Lp-PLA2 activity (APOE, CELSR2, LPA, PLA2G7, LDLR and SCARB1) and identified three novel loci (TOMM5, FRMD5 and LPL) using the GWAS-significance threshold P≤5E-08. Review of the PLA2G7 gene (encoding Lp-PLA2) within these datasets identified V279F null allele carriers as well as three other rare exonic null alleles within various ethnic groups, however none of these variants nor any other loci associated with Lp-PLA2 activity at baseline were associated with any of the drug response endpoints. The analysis of darapladib efficacy endpoints, despite low power, identified six low frequency loci with main genotype effect (though with borderline imputation scores) and one common locus (minor allele frequency 0.24) with genotype by treatment interaction effect passing the GWAS-significance threshold. This locus conferred risk in placebo subjects, hazard ratio (HR) 1.22 with 95% confidence interval (CI) 1.11-1.33, but was protective in darapladib subjects, HR 0.79 (95% CI 0.71-0.88). No major loci for tolerability were found. Thus, genetic analysis confirmed and extended the influence of lipoprotein loci on Lp-PLA2 levels, identified some novel null alleles in the PLA2G7 gene, and only identified one potentially efficacious subgroup within these two large clinical trials.
达拉匹林是一种脂蛋白相关磷脂酶A2(Lp-PLA2)抑制剂,在两项大型III期心血管结局试验中未能证明对主要终点有效,一项针对稳定型冠心病患者(STABILITY),另一项针对急性冠状动脉综合征(SOLID-TIMI 52)。未观察到重大安全信号,但腹泻和气味等耐受性问题较为常见(高达13%)。我们推测与Lp-PLA2活性相关的基因变异可能会影响疗效和耐受性,因此对这两项试验进行了全面的药物遗传学分析。我们对STABILITY和SOLID-TIMI 52试验中提供DNA样本并同意的患者进行基因分型(分别为13577例和10404例,分别占试验参与者的86%和82%),使用包含外显子内容的全基因组阵列,并使用千人基因组参考面板进行填充。我们使用荟萃分析方法在全基因组和候选基因水平上研究了Lp-PLA2活性的基线和基线变化、两个疗效终点(主要冠状动脉事件和心肌梗死)以及耐受性参数。我们重复了已发表基因座与基线Lp-PLA2活性(APOE、CELSR2、LPA、PLA2G7、LDLR和SCARB1)的关联,并使用全基因组关联研究(GWAS)显著性阈值P≤5E-08确定了三个新基因座(TOMM5、FRMD5和LPL)。在这些数据集中对PLA2G7基因(编码Lp-PLA2)的审查确定了V279F无效等位基因携带者以及不同种族中的其他三个罕见外显子无效等位基因,然而这些变异以及任何其他与基线Lp-PLA2活性相关的基因座均与任何药物反应终点无关。尽管效能较低,但对达拉匹林疗效终点的分析确定了六个具有主要基因型效应的低频基因座(尽管填充分数处于临界值)和一个常见基因座(次要等位基因频率为0.24),其基因型与治疗的相互作用效应通过了GWAS显著性阈值。该基因座在安慰剂受试者中带来风险,风险比(HR)为1.22,95%置信区间(CI)为1.11 - 1.33,但在达拉匹林受试者中具有保护作用,HR为0.79(95% CI为0.71 - 0.88)。未发现耐受性的主要基因座。因此,基因分析证实并扩展了脂蛋白基因座对Lp-PLA2水平的影响,在PLA2G7基因中鉴定出一些新的无效等位基因,并且在这两项大型临床试验中仅确定了一个潜在有效的亚组。
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