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Genetic Risk Scores for Cardiovascular Disease Prediction

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The heritability of diabetes and cardiovascular disease risk is polygenic in the vast majority of cases. In recent years, genome-wide association studies conducted in extremely large cohorts have enabled the discovery of single nucleotide polymorphisms (SNPs) that are associated with diabetes and cardiovascular disease. Nevertheless, the degree of risk inferred by each of these polymorphisms in isolation is minimal. Genetic risk scores have been developed, combining multiple SNPs, and have been shown to have strong associations with cardiovascular disease [51]. These associations have been confirmed in a diabetes cohort for a 13-SNP and a 30-SNP risk score [52]. However, adding the genetic risk score results to models incorporating traditional cardiovascular risk factors did not have a significant impact on discrimination or reclassification. It may be that known clinical risk factors are on the causal pathway to cardiovascular disease and therefore the genetic risk scores add little in terms of predictive capability in those with established risk factors, such as most patients with diabetes.

Diabetic Retinopathy and Cardiovascular Disease

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