A HapMap harvest of insights into the genetics of common disease
by
.Manolio TA, Brooks LD, Collins FS.
National Human Genome Research Institute,
31 Center Drive, Room 4B-09, Bethesda,
Maryland 20892-2154, USA.
manolio@nih.gov
J Clin Invest. 2008 May;118(5):1590-605.

ABSTRACT

Che International HapMap Project was designed to create a genome-wide database of patterns of human genetic variation, with the expectation that these patterns would be useful for genetic association studies of common diseases. This expectation has been amply fulfilled with just the initial output of genome-wide association studies, identifying nearly 100 loci for nearly 40 common diseases and traits. These associations provided new insights into pathophysiology, suggesting previously unsuspected etiologic pathways for common diseases that will be of use in identifying new therapeutic targets and developing targeted interventions based on genetically defined risk. In addition, HapMap-based discoveries have shed new light on the impact of evolutionary pressures on the human genome, suggesting multiple loci important for adapting to disease

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