Editors' ChoiceCardiovascular Genomics

Building a Preventive Medicine Model with Genetic Scoring

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Science Translational Medicine  11 Jan 2012:
Vol. 4, Issue 116, pp. 116ec4
DOI: 10.1126/scitranslmed.3003667

According to the International Diabetes Foundation, over 350 million people worldwide are diabetic. By 2020, that number will near 1 billion. Diabetics face a substantial two- to fourfold increase in the risk of cardiovascular disease: Accordingly, the global health and financial implications are staggering. Now, a meta-analysis of three independent studies of diabetics suggests that a genetic risk score may help to identify those at risk for devastating complications including heart attack and stroke.

Fifteen single-nucleotide polymorphisms (SNPs) identified in previous genome-wide association studies (GWAS) to be associated with coronary artery disease were tested. Of these, five were associated with cardiovascular events in the study population similar in direction to previous GWAS. The authors developed a genetic risk score on the basis of these five SNPs, with each SNP allele contributing 1 point, thereby giving a minimum score of 0 and maximum score of 10.

In a combined analysis of over 2500 diabetic patients with and without coronary artery disease, each extra point in the genetic risk score was associated with a 19% increase in the odds of having coronary artery disease. When compared with those with a risk score of 5 or less, individuals with a score of 8 or greater had nearly twice as high a risk of coronary artery disease (an odds ratio of 1.94). A remarkable 19% of the population was found to have a risk score of 8 or more. Even after adjustment for family history, the genetic risk score distinguished between those with and without coronary artery disease, which is in contrast to many previous studies in which similar risk scores lost predictive ability when family history was taken into account.

Before these results can be widely applied, diabetics of non-European descent must be examined. In addition, additional GWAS-validated susceptibility SNPs not included in this study will need to be incorporated, and tens of thousands of diabetics will need to be studied to overcome the marked phenotypic heterogeneity of diabetic populations. Nevertheless, rest assured that physicians will soon be incorporating genetic risk scores into their arsenal of tools to promote medication compliance and preventive behaviors in their diabetic patients.

L. Qi et al., Genetic susceptibility to coronary heart disease in type 2 diabetes. J. Am. Coll. Cardiol. 58, 2675–2682 (2011). [PubMed]

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