Editors' ChoiceCardiovascular Disease

It’s What You Do that Matters

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Science Translational Medicine  30 Nov 2011:
Vol. 3, Issue 111, pp. 111ec194
DOI: 10.1126/scitranslmed.3003486

“Why would you want to know, if there is nothing you can do about it?” Genetic studies of human disease frequently provide information about risk of disease, but some question the value of this knowledge, viewing genetic risk factors as an inevitable part of the disease for which no therapeutic intervention is possible. But this view is far too simplistic. It echoes the outdated genes-versus-environment debate in which genes and the environment were assumed to independently cause a proportion of disease. In truth, genes do not exist without their environments, and most genetic risk factors probably interact with environmental factors to affect disease susceptibility. A recent study by Do et al. provides a fascinating example of this principle, in which they show that cardiovascular disease risk conferred by a well-established genetic risk locus can be abrogated by a healthier diet.

Cardiovascular disease is a major cause of morbidity and mortality worldwide, and risk of disease is determined by environmental lifestyle factors such as diet and cigarette smoking as well as genetic factors. Genetic studies to date have implicated a number of common genetic variants, including the 9p21 chromosomal locus. In the current study, the authors genotyped 9p21 variants in 8000 subjects from around the world who had suffered a heart attack.. Detailed dietary information was available for the subjects, and the authors found that the genetic risk related to the 9p21 variant was abrogated in the group with the diet highest in fresh fruits and vegetables. The authors also genotyped a cohort of 19,000 Finnish subjects who had been followed up prospectively for cardiovascular disease and found a similar significant decrease in genetic risk in the group that consumed more fresh fruit and vegetables.

This study demonstrates the clear impact of a modifiable dietary factor on genetic risk for cardiovascular disease. It is likely that similar gene-environment interactions are widespread in human genetics. Most important, this study shows that knowing our genetic risks can allow appropriate preventive intervention, letting us take greater control over our genetic destinies.

R. Do et al., The effect of chromosome 9p21 variants on cardiovascular disease may be modified by dietary intake: Evidence from a case/control and a prospective study. PLoS Med. 9, e1001106 (2011). [Abstract]

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