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Human Molecular Genetics 2008 17(R2):R102-R108; doi:10.1093/hmg/ddn275
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

Karen L. Mohlke1,*, Michael Boehnke2 and Gonçalo R. Abecasis2

1 Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA 2 Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA

* To whom correspondence should be addressed. Tel: +1 9199662913; Fax: +1 9199663630; Email: mohlke{at}med.unc.edu

Received August 26, 2008; Accepted August 29, 2008

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 ~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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