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3, 4 With the incorporation of additional cohorts, including individuals of non-European ancestry, the Pooled Cohort Equations (PCE) provide the contemporary 10-year risk estimator for atherosclerotic cardiovascular disease (ASCVD) recommended by cardiovascular professional societies in the United States. The Framingham Risk Score, now nearly 25 years old, represents an early example of synthesizing multiple clinical risk factors into a single estimated risk for coronary artery disease (CAD) and stroke. 2 The cornerstone of prevention is early risk prediction coupled with risk mitigation. In an effort to reduce cardiovascular disease prevalence and its complications, much effort has focused on prevention. 1 Furthermore, cardiovascular diseases and their complications contribute to the substantial and ever-increasing health care costs in the United States. 1 In the United States, 121.5 million people have cardiovascular disease 1 and 26 million have diabetes (estimates from 2013 to 2016 data), each with continually increasing prevalences. We selected 5 cardiometabolic diseases (coronary artery disease, hypercholesterolemia, type 2 diabetes, atrial fibrillation, and venous thromboembolic disease) and response to drug therapy and offer provisional guidance to health care professionals, researchers, policymakers, and patients.Ĭardiovascular disease is the leading cause of morbidity and mortality in the United States and globally. In this scientific statement, we review the contemporary science, clinical considerations, and future challenges for polygenic risk scores for cardiovascular diseases. Thus, individuals and their physicians are increasingly presented with polygenic risk scores for cardiovascular conditions in clinical encounters. Genetic profiling is becoming widespread in large-scale research, including in health care–associated biobanks, randomized controlled trials, and direct-to-consumer profiling in tens of millions of people. Systematic cataloging for cardiovascular risk alleles also enabled the development of polygenic risk scores. Genome-wide association studies from such endeavors continue to elucidate causal mechanisms for cardiovascular diseases. Significant technological and methodological advances since the Human Genome Project are facilitating population-based comprehensive genetic profiling at decreasing costs. However, twin and familial aggregation studies imply that diverse cardiovascular conditions are heritable in the general population. Rare mendelian pathogenic variants predisposing to cardiometabolic conditions have long been known to contribute to disease risk in some families. Genetic characterization has been proposed as an approach to enable earlier and potentially tailored prevention.
However, despite advances, risk prediction remains imprecise with persistently high rates of incident cardiovascular disease. Current efforts focus on risk prediction and risk factor mitigation‚ which have been recognized for the past half-century. Customer Service and Ordering InformationĬardiovascular disease is the leading contributor to years lost due to disability or premature death among adults.
Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB).
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