Korean Circ J.  2020 Feb;50(2):91-111. 10.4070/kcj.2019.0293.

Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses

• Spiller W
• Jung KJ
• Lee JY
• Jee SH

• KMID: 2468035
• DOI: http://doi.org/10.4070/kcj.2019.0293

Abstract

Cardiovascular disease (CVD) is considered a primary driver of global mortality and is estimated to be responsible for approximately 17.9 million deaths annually. Consequently, a substantial body of research related to CVD has developed, with an emphasis on identifying strategies for the prevention and effective treatment of CVD. In this review, we critically examine the existing CVD literature, and specifically highlight the contribution of Mendelian randomization analyses in CVD research. Throughout this review, we assess the extent to which research findings agree across a range of studies of differing design within a triangulation framework. If differing study designs are subject to non-overlapping sources of bias, consistent findings limit the extent to which results are merely an artefact of study design. Consequently, broad agreement across differing studies can be viewed as providing more robust causal evidence in contrast to limiting the scope of the review to a single specific study design. Utilising the triangulation approach, we highlight emerging patterns in research findings, and explore the potential of identified risk factors as targets for precision medicine and novel interventions.

Keyword

Mendelian randomization analysis; Precision medicine; Triangulation; Cardiovascular diseases

MeSH Terms

Artifacts
Bias (Epidemiology)
Cardiovascular Diseases
Mendelian Randomization Analysis
Mortality
Precision Medicine*
Random Allocation*
Risk Factors

Figure

• 

  Figure 1 A directed acyclic graph illustrating the Mendelian randomization assumptions. G represents a genetic instrument, X and Y are the exposure and outcome of interest respectively, and U denotes one or more unmeasured confounders of the exposure and outcome. In the diagram, the bold arrow from G to X indicates the association between the instrument and exposure necessary to satisfy assumption IV1. The dashed arrows indicate associations which would, if non-zero, invalidate the second and third MR assumptions (IV2–3).

• 

  Figure 2 A flow chart showing the selection process for relevant papers.

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