[HTML][HTML] A HapMap harvest of insights into the genetics of common disease

TA Manolio, LD Brooks… - The Journal of clinical …, 2008 - Am Soc Clin Investig
TA Manolio, LD Brooks, FS Collins
The Journal of clinical investigation, 2008Am Soc Clin Investig
The 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 …
The 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-causing pathogens and new environments. In this review we examine the origin, development, and current status of the HapMap; its prospects for continued evolution; and its current and potential future impact on biomedical science.
The Journal of Clinical Investigation