孟德尔随机化
观察研究
混淆
因果推理
医学
相关性(法律)
研究设计
计算机科学
遗传变异
统计
生物
遗传学
内科学
病理
数学
基因型
基因
法学
政治学
作者
Ellen Dobrijevic,Anita van Zwieten,Krzysztof Kiryluk,Andrew J. Grant,Germaine Wong,Armando Teixeira‐Pinto
标识
DOI:10.1016/j.kint.2023.09.016
摘要
Confounding is a major limitation of observational studies. Mendelian randomization (MR) is a powerful study design that uses genetic variants as instrumental variables to enable examination of the causal effect of an exposure on an outcome in observational data. With the emergence of large-scale genome-wide association studies in nephrology over the past decade, MR has become a popular method to establish causal inferences. However, MR is a complex and challenging methodology that requires careful consideration to ensure robust results. This review article aims to summarize the basic concepts of MR, its application and relevance in nephrology, and the methodological challenges and limitations as well as discuss the current guidelines for design and reporting. With reference to a clinically relevant example of examining the causal relationship between the estimated glomerular filtration rate and cancer, this review outlines the key steps to conducting an MR study, including the key considerations and potential pitfalls at each step. These include defining the clinical question, selecting the data sources, identifying and refining appropriate genetic variants by considering linkage disequilibrium and associations with potential confounders, harmonization of variants across data sets, validation of the genetic instrument by assessing its strength, estimation of the causal effects, confirming the validity of the findings, and interpreting and reporting results.
科研通智能强力驱动
Strongly Powered by AbleSci AI