Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University Amsterdam, Amsterdam, The Netherlands.
Department of Data Science, Institute for Computing and Information Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.
Eur J Hum Genet. 2022 Jun;30(6):653-660. doi: 10.1038/s41431-022-01038-5. Epub 2022 Jan 26.
With the rapidly increasing availability of large genetic data sets in recent years, Mendelian Randomization (MR) has quickly gained popularity as a novel secondary analysis method. Leveraging genetic variants as instrumental variables, MR can be used to estimate the causal effects of one phenotype on another even when experimental research is not feasible, and therefore has the potential to be highly informative. It is dependent on strong assumptions however, often producing biased results if these are not met. It is therefore imperative that these assumptions are well-understood by researchers aiming to use MR, in order to evaluate their validity in the context of their analyses and data. The aim of this perspective is therefore to further elucidate these assumptions and the role they play in MR, as well as how different kinds of data can be used to further support them.
近年来,随着大量遗传数据集的快速出现,孟德尔随机化(MR)作为一种新的二次分析方法迅速流行起来。利用遗传变异作为工具变量,MR 可以用于估计一种表型对另一种表型的因果效应,即使在无法进行实验研究的情况下也是如此,因此具有很高的信息量。然而,它依赖于严格的假设,如果这些假设不成立,结果往往会有偏差。因此,对于那些希望使用 MR 的研究人员来说,了解这些假设是至关重要的,以便在分析和数据的背景下评估其有效性。因此,本文的目的是进一步阐明这些假设及其在 MR 中的作用,以及如何使用不同类型的数据来进一步支持这些假设。