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Title: Adaptive genetic variation and heart disease risk

item Parnell, Laurence
item LEE, YU-CHI - Tufts University
item Lai, Chao Qiang

Submitted to: Current Opinion in Lipidology
Publication Type: Review Article
Publication Acceptance Date: 1/14/2010
Publication Date: 4/1/2010
Citation: Parnell, L.D., Lee, Y., Lai, C. 2010. Adaptive genetic variation and heart disease risk. Current Opinion in Lipidology. 21(2):116-122.

Interpretive Summary:

Technical Abstract: Purpose of review: Obesity, dyslipidemia and cardiovascular disease are complex and determined by both genetic and environmental factors and their interrelationships. Many associations from genome-wide association studies (GWAS) and candidate gene approaches have described a multitude of polymorphisms associating with lipid and obesity phenotypes but identified genetic variants account for only a small fraction of phenotypic variation. Recent findings: That many genotype-phenotype associations involve variants under positive selection and that those variants respond to environmental cues together suggest prominent roles for both genetic adaptation and their interactions with the environment. Adaptive genetic variation interacting with environment modulates disease susceptibility but the level to which those variants contribute to dyslipidemia and obesity and how environmental factors, especially diet, alter the genetic association is not yet completely known. Summary: It is evident that genetic variants under positive selection make important contributions to obesity and heart disease risk. Advances in resequencing the entire human genome will enable accurate identification of adaptive variants. Considering interactions between environmental factors and genotypes will empower both GWAS and characterization of the relationship between positive selection and the obese and dyslipidemic conditions.