Summary: | Background: Cardiovascular disease is caused by a combination of
genetic and environmental risk factors. Some risk factors can change with age,
but a genetic predisposition is permanent. Therefore, identifying the genotype of
cardiovascular disease and using it alone or in combination with existing risk
algorithms can improve risk prediction. This systematic review was conducted to
examine existing studies on predictive models for cardiovascular disease using
genetic risk score and to determine the clinical utility. Methods: An
electronic database search was conducted to identify studies published from
January 2005 to July 2020. The literature search was performed using the search
terms “coronary artery disease”, “coronary heart disease”, “cardiovascular
diseases”, “genetic risk score”, and “polygenic risk score”.
Results: Through systematic review, 29 studies were identified. In most
studies, genetic risk score was associated with the incidence of cardiovascular
disease. In 23 studies, clinical utility was improved based on discrimination
between or reclassification of subjects who did and did not experience an event,
but the improvement was modest. Conclusions: The predictive model for
cardiovascular disease using genetic risk score has limited usefulness in
clinical practice due to methodological heterogeneity of genetic risk score
constructs. Further research to develop a standardized protocol of genetic risk
score constructs and validation studies with various cohorts from diverse
populations are required.
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