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From genome-wide association studies to Mendelian randomization: novel opportunities for understanding cardiovascular disease causality, pathogenesis, prevention, and treatment

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  1. Genome-wide association study identifies locus at chromosome 2q32.1 associated with syncope and collapse

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genetic associations and regulation of expression indicate an independent role for 14q32 snoRNAs in Human Cardiovascular Disease

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  3. Sphingosine-1-phosphate reduces ischaemia-reperfusion injury by phosphorylating the gap junction protein Connexin43

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  4. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study

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  1. Impact of glucose on risk of dementia: Mendelian randomisation studies in 115,875 individuals

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  2. Repositioning of the global epicentre of non-optimal cholesterol

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Peripheral Neuropathy - time for better biomarkers?

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  4. Type-2 diabetes and risk of dementia: observational and Mendelian randomisation studies in 1 million individuals

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  5. Impact of Glucose Level on Micro- and Macrovascular Disease in the General Population: A Mendelian Randomization Study

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The Mendelian randomization approach is an epidemiological study design incorporating genetic information into traditional epidemiological studies to infer causality of biomarkers, risk factors, or lifestyle factors on disease risk. Mendelian randomization studies often draw on novel information generated in genome-wide association studies on causal associations between genetic variants and a risk factor or lifestyle factor. Such information can then be used in a largely unconfounded study design free of reverse causation to understand if and how risk factors and lifestyle factors cause cardiovascular disease. If causation is demonstrated, an opportunity for prevention of disease is identified; importantly however, before prevention or treatment can be implemented, randomized intervention trials altering risk factor levels or improving deleterious lifestyle factors needs to document reductions in cardiovascular disease in a safe and side-effect sparse manner. Documentation of causality can also inform on potential drug targets, more likely to be successful than prior approaches often relying on animal or cell studies mainly. The present review summarizes the history and background of Mendelian randomization, the study design, assumptions for using the design, and the most common caveats, followed by a discussion on advantages and disadvantages of different types of Mendelian randomization studies using one or more samples and different levels of information on study participants. The review also provides an overview of results on many of the risk factors and lifestyle factors for cardiovascular disease examined to date using the Mendelian randomization study design.

Original languageEnglish
JournalCardiovascular Research
Volume114
Issue number9
Pages (from-to)1192-1208
Number of pages17
ISSN0008-6363
DOIs
Publication statusPublished - 15 Jul 2018

ID: 55738824