根据遗传决定因素对冠状动脉疾病风险分层进行严重高胆固醇血症的亚型划分
Alexander S F Berry1, Laney K Jones2,3, Eric J Sijbrands4
1Autism and Developmental Medicine Institute Geisinger, Lewisburg, PA (A.S.F.B., M.T.O.).
Arteriosclerosis, thrombosis, and vascular biology
|August 17, 2023
概括
严重高胆固醇血症的基因风险分层,特别是单一的家族高胆固醇血症和升高的脂蛋白 (a),与单独的LDL-C水平相比,可以更好地预测10年冠状动脉疾病风险.
科学领域:
- 心血管医学 心血管医学
- 遗传学 是一个遗传学.
- 流行病学 流行病学
背景情况:
- 严重的高胆固醇血症 (LDL-C ≥190 mg/dL) 显著增加冠状动脉疾病 (CAD) 的风险.
- 原因包括单一的家族性高胆固醇血症,多基因的高胆固醇血症,升高的脂蛋白 (Lp) 和组合或非遗传因素.
- 遗传风险分层与LDL-C水平对预测严重高胆固醇血清症中发生的CAD的比较价值尚不清楚.
研究的目的:
- 评估基因亚型是否改善严重高胆固醇血症的10年发生的CAD风险分层,与LDL-C水平相比.
- 为了在不同严重高胆固醇血症的遗传和非遗传亚型中比较发生的CAD风险.
主要方法:
- 对130,091名英国生物库参与者的回顾性队列研究.
- 分析的重点是不相关的白人英国人或爱尔兰人,具有外基因组测序数据.
- 排除具有先前存在心血管疾病的参与者.
主要成果:
- 严重高胆固醇血清症的标准在队列中达到9.0%.
- 随着较高的LDL-C水平 (例如,≥230 mg/dL与190-209 mg/dL相比),观察到CAD风险的适度增加.
- 遗传亚型显示出显著的风险差异:单一的家族性高胆固醇血症 (HR 2.3),升高的Lp (HR 1.5) 和双击 (HR 1.9) 的CAD风险高于非遗传原因.
结论:
- 基于基因的单一性家族性高胆固醇血症和升高的Lp (a) 的亚型化提供了优越的10年发生的CAD风险分层.
- 仅基于LDL-C的分层对在严重高胆固醇血清症类别中识别高风险个体效果不佳.
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