Summary: © 2005 Nature Publishing Group
A haplotype map of the human genome
The International HapMap Consortium*
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a
public database of common variation in the human genome: more than one million single nucleotide polymorphisms
(SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations,
including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low
haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the
HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and
recombination, and identify loci that may have been subject to natural selection during human evolution.
Despite the ever-accelerating pace of biomedical research, the root
causes of common human diseases remain largely unknown, pre-
ventative measures are generally inadequate, and available treatments
are seldom curative. Family history is one of the strongest risk factors
for nearly all diseases--including cardiovascular disease, cancer,
diabetes, autoimmunity, psychiatric illnesses and many others--
providing the tantalizing but elusive clue that inherited genetic
variation has an important role in the pathogenesis of disease.
Identifying the causal genes and variants would represent an impor-