Abstract
Although largely preventable, cardiovascular diseases (CVDs) are the biggest cause of death worldwide. Common complex cardiovascular disorders (e.g., coronary heart disease, hypertonia, or thrombophilia) result from a combination of genetic alterations and environmental factors. Recent advances in the genomics of CVDs have fostered huge expectations about future use of susceptibility variants for prevention, diagnosis, and treatment. Our aim was to summarize the latest developments in the field from a public health perspective focusing on the applicability of data on single-nucleotide polymorphisms (SNPs), through a systematic review of studies from the last decade on genetic risk estimating for common CVDs. Several keywords were used for searching the PubMed, Embase, CINAHL, and Web of Science databases. Recent advances were summarized and structured according to the main public health domains (prevention, early detection, and treatment) using a framework suggested recently for translational research. This framework includes four recommended phases: "T1. From gene discovery to candidate health applications; T2. From health application to evidence-based practice guidelines; T3. From evidence-based practice guidelines to health practice; and T4. From practice to population health impacts." The majority of translation research belongs to the T1 phase "translation of basic genetic/genomic research into health application"; there are only a few population-based impacts estimated. The studies suggest that an SNP is a poor estimator of individual risk, whereas an individual's genetic profile combined with non-genetic risk factors may better predict CVD risk among certain patient subgroups. Further research is needed to validate whether these genomic profiles can prospectively identify individuals at risk to develop CVDs. Several research gaps were identified: little information is available on studies suggesting "Health application to evidence-based practice guidelines"; no study is available on "Guidelines to health practice." It was not possible to identify studies that incorporate environmental or lifestyle factors in the risk estimation. Currently, identifying populations having a larger risk of developing common CVDs may result in personalized prevention programs by reducing people's risk of onset or disease progression. However, limited evidence is available on the application of genomic results in health and public health practice.
Highlights
Despite the fact that cardiovascular diseases (CVDs) are largely preventable they are the biggest cause of death worldwide, responsible for almost one-third of all global deaths [1]
This review focuses on common complex cardiovascular disorders with high public health importance caused by a combination of several genetic and environmental factors
The contribution of inherited disposition is still the focus of intense research interest [2]. Our knowledge of these non-genetic risk factors has been useful in disease prevention efforts, but hopefully, we may discover more effective ways of preventing and controlling CVDs if we understand the genetics underlying these diseases
Summary
Despite the fact that cardiovascular diseases (CVDs) are largely preventable they are the biggest cause of death worldwide, responsible for almost one-third of all global deaths [1]. Cheng J, Liu J, Li X, Peng J, Han S, Zhang R, et al Insulin-like growth factor-1 receptor polymorphism and ischemic stroke: a case–control study in Chinese population. Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Genetic variation of the androgen receptor and risk of myocardial infarction and ischemic stroke in women. Biswas A, Ranjan R, Meena A, Akhter MS, Yadav BK, Munisamy M, et al Homocystine levels, polymorphisms and the risk of ischemic stroke in young Asian Indians. Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients.
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