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Hum Mol Genet. 2008 Oct 15;17(R2):R102-8. doi: 10.1093/hmg/ddn275.

Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

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Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.


Genome-wide association studies are providing new insights into the genetic basis of metabolic and cardiovascular traits. In the past 3 years, common variants in approximately 50 loci have been strongly associated with metabolic and cardiovascular traits. Several of these loci have implicated genes without a previously known connection with metabolism. Further studies will be required to characterize the full impact of these loci on metabolism. Many of the identified loci include multiple independent variants that influence the same metabolic or cardiovascular trait and a few loci harbor independent variants that each influence distinct traits. The total proportion of trait heritability explained by variants identified so far is still modest (typically <10%). Future studies will build on these successes by identifying additional common and rare variants and by determining the functional impact of the underlying alleles and genes.

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