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Genetic influences on blood lipids and cardiovascular disease risk: tools for primary prevention^1,2,3,4

¹ From the Nutrition and Genomics Laboratory, USDA Human Nutrition Center on Aging, Tufts University, Boston, MA.

² Presented at the workshop "Early Risk Determinants and Later Health Outcomes: Implications for Research Prioritization and the Food Supply," held in Washington, DC, July 8–9, 2008.

³ Supported by the National Institutes of Health, National Institute on Aging grant no. 5P01AG023394-02, NIH/NHLBI grant nos. HL54776 and U01HL072524-04, NIH/NIDDK DK075030, and contracts 53-K06-5-10 and 58-1950-9-001 from the USDA Research Service. Funds to support the writing of this manuscript were provided in part by the Project Committee on Early Nutrition of the International Life Sciences Institute North American Branch.

⁴ Reprints not available. Address correspondence to JM Ordovas, Nutrition and Genomics Laboratory, USDA Human Nutrition Center on Aging, Tufts University, 711 Washington Street, Boston, MA 02111-1524. E-mail: jose.ordovas{at}tufts.edu.

Genetic polymorphism in human populations is part of the evolutionary process that results from the interaction between the environment and the human genome. Recent changes in diet have upset this equilibrium, potentially influencing the risk of most common morbidities such as cardiovascular diseases, obesity, diabetes, and cancer. Reduction of these conditions is a major public health concern, and such a reduction could be achieved by improving our ability to detect disease predisposition early in life and by providing more personalized behavioral recommendations for successful primary prevention. In terms of cardiovascular diseases, polymorphisms at multiple genes have been associated with differential effects in terms of lipid metabolism; however, the connection with cardiovascular disease has been more elusive, and considerable heterogeneity exists among studies regarding the predictive value of genetic markers. This may be because of experimental limitations, the intrinsic complexity of the phenotypes, and the aforementioned interactions with environmental factors. The integration of genetic and environmental complexity into current and future research will drive the field toward the implementation of clinical tools aimed at providing dietary advice optimized for the individual's genome. This may imply that dietary changes are implemented early in life to gain maximum benefit. However, it is important to highlight that most reported studies have focused on adult populations and to extrapolate these findings to children and adolescents may not be justified until proper studies have been carried out in these populations and until the ethical and legal issues associated with this new field are adequately addressed.

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