在一般人群中,高LDL胆固醇和缺血性心脏病的多基因风险
Tim Møller Eyrich1, Nawar Dalila1, Mette Christoffersen1
1Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Denmark.
Atherosclerosis
|September 8, 2024
概括
对LDL-C和CAD的多基因风险评分 (PRS) 有效预测缺血性心脏病风险. 这些遗传分数显示出临床使用的潜力,用于识别高风险个体.
科学领域:
- 心血管遗传学 心血管遗传学
- 多基因风险评分 多基因风险评分
- 脂质代谢 脂质代谢是什么
背景情况:
- 低密度脂蛋白胆固醇 (LDL-C) 和冠状动脉疾病 (CAD) 是缺血性心脏病 (IHD) 的主要危险因素.
- 多基因风险评分 (PRS) 是评估对复杂疾病的遗传倾向的新兴工具.
- 家庭性高胆固醇血症 (FH) 为了解严重的LDL-C升高对IHD风险的影响提供了一个模型.
研究的目的:
- 评估LDL-C和CAD的多基因风险评分 (PRS) 与一般人群中的LDL-C水平和IHD风险的相关性.
- 将PRS的预测能力与导致FH的罕见变体进行比较.
主要方法:
- 利用了来自哥本哈根一般人口研究和哥本哈根城市心脏研究中的21,485人的数据.
- 使用超过40万个遗传变异计算了LDL-C PRS和CAD PRS.
- 与FH相关的LDLR或APOB的基因型罕见变异.
主要成果:
- 在LDL-C PRS的前1%的人群中,与中间组相比,LDL-C为4.75 mmol/L,IHD几率比为1.83.
- 在CAD PRS中,前1%的投资者显示IHD赔率比为2.06.
- 导致FH的罕见变异与较高的LDL-C (5.40-6.09 mmol/L) 和IHD几率比为2.27.相关.
结论:
- 1%的LDL-C PRS和CAD PRS对LDL-C和IHD风险的预测效应与导致FH的罕见变异相比较.
- 这些发现表明,LDL-C和CAD的PRS在风险分层中具有显著的临床实施潜力.
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