Sophie C de Ruiter, Lena Tschiderer, Diederick E Grobbee, Peter Willeit, Hester M den Ruijter, A Floriaan Schmidt, Sanne A E Peters
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Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions.
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.
Global HeartMedicine-Cardiology and Cardiovascular Medicine
CiteScore
5.70
自引率
5.40%
发文量
77
审稿时长
5 weeks
期刊介绍：
Global Heart offers a forum for dialogue and education on research, developments, trends, solutions and public health programs related to the prevention and control of cardiovascular diseases (CVDs) worldwide, with a special focus on low- and middle-income countries (LMICs). Manuscripts should address not only the extent or epidemiology of the problem, but also describe interventions to effectively control and prevent CVDs and the underlying factors. The emphasis should be on approaches applicable in settings with limited resources.
Economic evaluations of successful interventions are particularly welcome. We will also consider negative findings if important. While reports of hospital or clinic-based treatments are not excluded, particularly if they have broad implications for cost-effective disease control or prevention, we give priority to papers addressing community-based activities. We encourage submissions on cardiovascular surveillance and health policies, professional education, ethical issues and technological innovations related to prevention.
Global Heart is particularly interested in publishing data from updated national or regional demographic health surveys, World Health Organization or Global Burden of Disease data, large clinical disease databases or registries. Systematic reviews or meta-analyses on globally relevant topics are welcome. We will also consider clinical research that has special relevance to LMICs, e.g. using validated instruments to assess health-related quality-of-life in patients from LMICs, innovative diagnostic-therapeutic applications, real-world effectiveness clinical trials, research methods (innovative methodologic papers, with emphasis on low-cost research methods or novel application of methods in low resource settings), and papers pertaining to cardiovascular health promotion and policy (quantitative evaluation of health programs.
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