Genomewide association studies in cardiovascular disease--an update 2011

BACKGROUND: Genomewide association studies have led to an enormous boost in the identification of susceptibility genes for cardiovascular diseases. This review aims to summarize the most important findings of recent years.

CONTENT: We have carefully reviewed the current literature (PubMed search terms: "genome wide association studies," "genetic polymorphism," "genetic risk factors," "association study" in connection with the respective diseases, "risk score," "transcriptome").

SUMMARY: Multiple novel genetic loci for such important cardiovascular diseases as myocardial infarction, hypertension, heart failure, stroke, and hyperlipidemia have been identified. Given that many novel genetic risk factors lie within hitherto-unsuspected genes or influence gene expression, these findings have inspired discoveries of biological function. Despite these successes, however, only a fraction of the heritability for most cardiovascular diseases has been explained thus far. Forthcoming techniques such as whole-genome sequencing will be important to close the gap of missing heritability.