A HapMap harvest of insights into the genetics of common disease

J Clin Invest. 2008 May;118(5):1590-605. doi: 10.1172/JCI34772.


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.

Publication types

  • Review

MeSH terms

  • Chromosome Mapping
  • Databases, Genetic*
  • Evolution, Molecular
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genetics, Population
  • Genome, Human*
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium