High-resolution genomewide association studies using panelsof 300,000 to 1 million single-nucleotide polymorphisms (SNPs)aim to define genetic risk profiles of common diseases. Thesestudies herald a fundamentally new opportunity to explore humanbiology and medicine, since they are unbiased by previous hypothesesor assumptions about the nature of genes that influence complexdiseases. Underscoring the importance of this approach is thefact that many genetic variants identified as risk factors intype 2 diabetes and Crohn's disease by such studies have beenlocalized to previously unsuspected pathways, to genes withouta known function, or to noncoding regions of genes.
From the University of Helsinki and the National Public Health Institute, Biomedicum, Helsinki, Finland; and the Broad Institute, Massachusetts Institute of Technology, Cambridge, MA.
This article (10.1056/NEJMe078147) was published at www.nejm.org on July 29, 2007.
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