Received on August 29, 2008
Accepted on October 30, 2008

Review

Population-Based Genomewide Genetic Analysis of Common Clinical Chemistry Analytes

¹ Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA

^* To whom correspondence should be addressed. E-mail: dchasman{at}rics.bwh.harvard.edu.

BACKGROUND: Recent technologies enable genetic association studies of common clinical analytes on a genomewide basis in populations numbering thousands of individuals. The first publications using these technologies are already revealing novel biological functions for both genic and nongenic loci, and are promising to transform knowledge about the biological networks underlying disease pathophysiology. These early studies have also led to development of a set of principles for conducting a successful genomewide association study (GWAS).

CONTENT: This review focuses on these principles with emphasis on the use of GWAS for plasma-based analytes to better understand human disease, with examples from cardiovascular biology.

CONCLUSIONS: The correlation of common genetic variation on a genomewide basis with clinical analytes, or any other outcome of interest, shows promise in revealing how the parts of the genome work together in human physiology. Nonetheless, performing a genomewide association study demands an awareness of very specific epidemiologic and analytic principles.