Atrial fibrillation (AF) is a common and serious heart rhythm disorder associated with significant morbidity and mortality. It affects millions globally, leading to increased risks of stroke, heart failure, and other heart-related complications. Prevention and early detection of AF are crucial due to its asymptomatic nature in some individuals and its potential for severe health consequences.
AF is a complex condition influenced by both genetic and non-genetic factors. This multifactorial etiology makes predicting and managing AF particularly challenging. Understanding the intricate interplay between these factors is key to developing more effective strategies for AF prevention and treatment.
Several lifestyle and environmental factors contribute significantly to the development of AF. Key non-genetic risk factors include hypertension, obesity, diabetes, smoking, and excessive alcohol consumption. These modifiable factors provide potential targets for reducing the risk of AF.
Alongside non-genetic factors, genetic predisposition plays a significant role in AF risk. While rare monogenic variants contribute to some familial forms of AF, recent studies emphasize the importance of polygenic factors. Polygenic risk scores (PRS), which consider the cumulative effect of multiple genetic variants, are increasingly recognized as valuable in assessing AF risk.
Integrating PRS into AF risk assessment offers substantial benefits. Studies have shown that individuals with high PRS are at an increased risk of developing AF, suggesting the utility of PRS in identifying high-risk individuals. For instance, a study by Mars et al. (2020) found that a high PRS contributed to an earlier onset of AF and improved prediction models for the disease (Mars et al., 2020). Another study highlighted that incorporating PRS into clinical risk assessment significantly improves stroke prediction among AF patients, demonstrating the clinical utility of PRS in managing AF-related complications (O’Sullivan et al., 2021).
Incorporating polygenic risk scores into the risk assessment and management of atrial fibrillation represents a major advancement in personalized medicine. PRS can enhance the identification of individuals at higher risk, enabling early intervention and tailored management strategies, ultimately improving patient outcomes in atrial fibrillation.
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