孟德尔随机化在高血压中的研究进展

Mendelian randomization in hypertension: recent advances and perspectives

  • 摘要: 高血压作为一种以体循环动脉压力持续升高为主要特征的心血管综合征,影响着全球近三分之一的成年人群,是导致心、脑、肾等多脏器损伤,危害人类健康的主要慢性病之一。传统观察性研究因难以克服混杂偏倚与反向因果干扰,在阐明病因及与其他疾病的因果关系上存在局限;随机对照试验虽能验证因果关系,却常受限于样本规模、成本及伦理因素。近年来,孟德尔随机化(MR)方法利用遗传变异作为工具变量,为高血压的因果推断研究提供了新路径。MR方法已在高血压的病因探索、靶器官损害机制解析及潜在治疗靶点预测等方面取得了系列新发现。本文旨在综述基于MR方法的高血压研究进展,并探讨其在高血压病因学、精准预防及治疗靶点发掘等领域的应用价值与未来潜力。

     

    Abstract: Hypertension, a cardiovascular syndrome characterized by persistently elevated systemic arterial pressure, affects nearly one-third of the global adult population and remains a leading chronic disease contributing to multi-organ damage in the heart, brain, kidneys, and other vital systems. While randomized controlled trials offer causal insights, their application is often constrained by sample size limitations, high costs, and ethical considerations. In recent years, Mendelian randomization (MR) has emerged as a powerful approach for causal inference in hypertension research by leveraging genetic variants as instrumental variables. MR studies have already shed new light on the etiology of hypertension, elucidated mechanisms of target organ damage, and identified potential therapeutic targets. This review synthesizes current advances in MR-based hypertension research and discusses its prospective applications and potential in clarifying disease etiology, guiding precision prevention, and informing novel treatment strategies.

     

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