Vibrant Sciences LLC., San Carlos, CA.
Vibrant LLC., San Carlos, CA.
Medicine (Baltimore). 2023 Jun 9;102(23):e33953. doi: 10.1097/MD.0000000000033953.
Cardiovascular diseases (CVDs) are a leading cause of death worldwide which is why early risk prediction is crucial. Discrete Polygenic risk score (PRS) measurement using saliva or dried blood spot samples collected at home poses a convenient means for early CVD risk assessment. The present study assessed the effects of 28 disease-associated single nucleotide polymorphisms (SNPs) on 16 serological cardiac markers and also aggregated the risk alleles into a PRS to evaluate its applicability in CVD-risk prediction. The study assessed genetic and serological markers in 184 individuals. The association between serological markers and individual genetic variants was evaluated using a two-tailed t test while the associations of serum markers with the PRS was analyzed using the Pearson correlation. The comparative analysis of genotypes revealed statistically significant associations between serum markers and CVD-associated SNPs with Apo B: Apo A-1, LDL Direct, Apo B, sdLDL, hsCRP, Lp(a), NT-proBNP, and PLAC levels being significantly associated with the risk alleles of the SNPs, rs12526453, rs5186, rs10911021, rs1801131, rs670, rs10757274, and rs10757278. Increased PLAC levels were associated with rs10757274 and rs10757278 (P < .05). The SNPs, rs1801133, rs1549758, rs1799983, rs5082, and rs5186 were significantly associated with an increase in the cardioprotective markers, HDL and ApoA1 (P < .05). Furthermore, the PRS was associated with increasing levels of several serum cardiac markers (r2 > 0.6). Significant correlations were observed between high PRSs and NT-proBNP and ox-LDL levels with the r2 values being 0.82 (95% CI = 0.13-0.99; P = .03) and 0.94 (95% CI = 0.63-0.99; P = .005), respectively. The present study reports that SNPs have differential effects on serum markers with rs12526453, rs5186, rs10911021, rs1801131, rs670, rs10757274, and rs10757278 showing significant associations with elevated marker levels, which are indicators of deteriorating cardiac health. A unified PRS using several SNPs was also associated with an increase in serum markers levels, especially, NT-proBNP and ox-LDL. Genetic assessment via a convenient at-home collection to calculate the PRS can serve as an effective predictive tool for early CVD-risk assessment. This may help identify the risk groups that may require increased serological monitoring.
心血管疾病 (CVDs) 是全球范围内的主要死亡原因，因此早期风险预测至关重要。使用在家中采集的唾液或干血斑样本进行离散多基因风险评分 (PRS) 测量，为早期 CVD 风险评估提供了便利的手段。本研究评估了 28 个与疾病相关的单核苷酸多态性 (SNP) 对 16 种血清心脏标志物的影响，并将风险等位基因聚合到 PRS 中，以评估其在 CVD 风险预测中的适用性。该研究评估了 184 个人的遗传和血清标志物。使用双尾 t 检验评估血清标志物与个体遗传变异之间的关联，使用 Pearson 相关分析评估血清标志物与 PRS 的关联。基因型的比较分析显示，血清标志物与 CVD 相关 SNP（载脂蛋白 B：载脂蛋白 A-1、LDL 直接、载脂蛋白 B、sdLDL、hsCRP、Lp(a)、NT-proBNP 和 PLAC 水平）之间存在统计学显著关联，与 rs12526453、rs5186、rs10911021、rs1801131、rs670、rs10757274 和 rs10757278 的风险等位基因显著相关。PLAC 水平升高与 rs10757274 和 rs10757278 相关（P<.05）。rs1801133、rs1549758、rs1799983、rs5082 和 rs5186 与保护性标志物 HDL 和 ApoA1 的增加显著相关（P<.05）。此外，PRS 与几种血清心脏标志物水平的升高相关（r2>0.6）。高 PRS 与 NT-proBNP 和 ox-LDL 水平之间存在显著相关性，r2 值分别为 0.82（95%CI=0.13-0.99；P=0.03）和 0.94（95%CI=0.63-0.99；P=0.005）。本研究报告称，SNP 对血清标志物有不同的影响，rs12526453、rs5186、rs10911021、rs1801131、rs670、rs10757274 和 rs10757278 与标志物水平升高显著相关，这些标志物是心脏健康恶化的指标。使用多个 SNP 构建的统一 PRS 也与血清标志物水平的升高相关，尤其是 NT-proBNP 和 ox-LDL。通过在家中采集样本进行方便的遗传评估来计算 PRS 可以作为早期 CVD 风险评估的有效预测工具。这有助于识别可能需要增加血清监测的风险群体。
