de Ruiter Sophie C, Tschiderer Lena, Grobbee Diederick E, Willeit Peter, den Ruijter Hester M, Schmidt A Floriaan, Peters Sanne A E
Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Institute of Clinical Epidemiology, Public Health, Health Economics, Medical Statistics and Informatics, Medical University of Innsbruck, Innsbruck, Austria.
Glob Heart. 2025 Jun 17;20(1):54. doi: 10.5334/gh.1438. eCollection 2025.
Mendelian randomisation is an approach in genetic epidemiology that uses genetic variants as instrumental variables to investigate the causal relationship between genetically proxied exposures and health outcomes. During the last years, the number of published Mendelian randomisation studies increased tremendously. There are several opportunities of Mendelian randomisation including obtaining potential causal relationships between both exogenous and endogenous exposures and outcomes and for identifying and prioritising drug-targets to inform clinical trials. However, it is also important to be aware of its challenges. This includes the reliability of results under the assumptions on instrumental variables, being aware of potential biases, the correct and critical interpretation of findings and comparison to the results of randomised controlled trials, as well as the availability of genetic data on specific subgroups. This review provides a comprehensive overview of the opportunities and challenges of Mendelian randomisation and presents key future perspectives.
孟德尔随机化是遗传流行病学中的一种方法，它使用基因变异作为工具变量来研究基因代理暴露与健康结果之间的因果关系。在过去几年中，已发表的孟德尔随机化研究数量大幅增加。孟德尔随机化有多种应用机会，包括获取外源性和内源性暴露与结果之间的潜在因果关系，以及识别药物靶点并确定其优先级以指导临床试验。然而，认识到其面临的挑战也很重要。这包括在工具变量假设下结果的可靠性、意识到潜在偏差、对研究结果进行正确且关键的解读并与随机对照试验结果进行比较，以及特定亚组基因数据的可用性。本综述全面概述了孟德尔随机化的机会与挑战，并呈现了关键的未来展望。
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