Hapmap Publication a Milestone

The International HapMap Consortium has published its haplotype map, a milestone advance in the scientific effort to gather data on variation in the human genome and an important step towards the still far-off vision of personalized medicine.

So important, apparently, that the hapmap.org website was unavailable early Thursday morning.

The project to determine and map patterns of genetic variation throughout the human genome has brought scientists from Canada, China, Japan, Nigeria, the UK and the US together to document minute variations [single nucleotide polymorphisms] in DNA from 269 volunteers drawn from four different ethnic groups -- Nigeria's Yoruba people, Tokyo residents, Han Chinese from the Beijing region and in the US state of Utah residents of Northern European heritage.

While the map doesn't address all of the estimated 10 million SNPs thought to be expressed in the human genome, it does include 1 million SNPs produced in Phase 1 of the three-year project. And, with another 2 million SNPs already mapped by Perlegen for the next phase of the project, it creates a critical mass of data and provides “overwhelming evidence,” according to a statement from the Broad Institute of Harvard and MIT, that variation in humans occurs in blocks called haplotypes.

This knowledge, and that to come, will be important in improving the diagnosis and treatment of diseases with significant genetic components such as heart disease, asthma, Type 1 diabetes, schizophrenia, and some types of cancer.

HapMap data are available in public databases, including the HapMap Data Coordination Center (www.hapmap.org), the NIH-funded National Center for Biotechnology Information's dbSNP (www.ncbi.nlm.nih.gov/SNP/index.html) and the JSNP Database in Japan (snp.ims.u-tokyo.ac.jp).