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

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

Karen L Mohlke  1 , Michael Boehnke, Gonçalo R Abecasis
Affiliations

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

Karen L Mohlke et al. Hum Mol Genet. .

Abstract

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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Figures

Figure 1.
Figure 1.
Evidence for association with several traits on chromosome 9p21. Evidence for association with type 2 diabetes (T2D) is shown for single nucleotide polymorphisms (SNPs) evaluated in 10 128 GWA samples (18); P-values are substantially more significant when follow-up samples are included (see Table 1). Arrows indicate the locations of SNPs reported to be associated with frailty, coronary heart disease (CHD), myocardial infarction (MI), and coronary artery disease (CAD). Black bars indicate the locations of recombination hotspots, and the locations of genes and transcripts are indicated at the bottom.
Figure 2.
Figure 2.
Evidence for association with low density lipoprotein cholesterol (LDL-C) at a locus spanning many genes. Evidence for association is shown for evaluated single nucleotide polymorphisms (SNPs) in 8816 GWA samples (29). SNPs are colored according to their degree of linkage disequilibrium with rs2228603, the SNP most strongly associated with LDL-C in this region. The bottom panel depicts the locations of genes. Figure adapted from Willer et al. (29).
See this image and copyright information in PMC

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