The Pros and Cons of Mendelian Randomization Studies to Evaluate Emerging Cardiovascular Risk Factors
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NOVEL AND EMERGING RISK FACTORS (KHURRAM NASIR, SECTION EDITOR)
The Pros and Cons of Mendelian Randomization Studies to Evaluate Emerging Cardiovascular Risk Factors Jainy Savla 1 & Ian J. Neeland 1 Published online: 22 January 2018 # Springer Science+Business Media, LLC, part of Springer Nature 2018
Abstract Purpose of Review Mendelian randomization (MR) is a technique that uses natural genetic variation to assess the potential causal role of a modifiable risk factor on cardiovascular disease. Advances have led to the identification of single nucleotide polymorphisms linked with risk factors that act as naturally randomized instruments to investigate the risk factor-disease relationship. Recent Findings There are several pros and cons when using MR. It can address many limitations of observational study design including confounding, reverse causation, and demonstration of causality when a randomized controlled trial is not practical or feasible. However, several limitations do exist and include pleiotropy (multiple downstream effects of a single genetic variant), linkage disequilibrium (non-random association of genetic variation), and imprecise estimates of causal effects. Summary MR is an important tool in cardiovascular research and has been applied to assess cardiovascular risk factors including obesity and atrial fibrillation. While these studies provide insight into disease causation, understanding the strengths and limitations of the technique is important for appropriate interpretation of results. Keywords Mendelian randomization . Cardiovascular disease . Genetic variants . Cardiovascular risk factors . Observational study design . Randomized controlled trials
Introduction Prior to the introduction of randomized control trials (RCTs), physicians relied on personal experience, case reports, case series, and epidemiological associations to guide clinical practice. With the introduction of the RCT, researchers established a “gold standard” method for addressing important clinical questions that have changed the practice of medicine. In addition to limiting various biases associated with observational study design, RCTs can go beyond epidemiological associations to establish a causal relationship between a risk factor and a disease. While RCTs have improved our understanding of risk factors and treatments for cardiovascular disease (CVD), this method has several limitations. RCTs can be This article is part of the Topical Collection on Novel and Emerging Risk Factors * Ian J. Neeland [email protected] 1
Division of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8830, USA
expensive and time consuming to conduct. They also require rigorous trial design to accurately interpret the results. From an ethical standpoint, clinical equipoise must be established in order to carry out a RCT. By this principle, there must be uncertainty in each arm as to which exposure or treatment will benefit patients. This require
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