An international consortium that aims to catalogue patterns of human genetic variation has dropped restrictions on the use of its data. The 'HapMap' project, launched in October 2002, is looking at DNA samples from 270 people from around the world, to help uncover the genetic differences linked to illnesses such as heart disease, cancer and diabetes. The information can now be incorporated into other, freely available genetic databases, reports Nature.
The HapMap scientists are looking at genetic markers (SNPs or single nucleotide polymorphisms) that have been inherited together in a block over many generations, indicating that they are physically close to each other. To identify these 'haplotype blocks', researchers will study people originating from China, Nigeria, Japan and the US. Between them, these populations are thought to represent the majority of human genetic variation.
Once catalogued, the haplotype blocks will provide a 'shortcut' for researchers trying to identify genes involved in common diseases. Instead of having to study all of the estimated ten million SNPs, scientists will only have to look at SNPs in key positions within each block. However, when the $100 million HapMap project first began, its organisers were worried that people would attempt to patent certain versions of haplotype blocks. For this reason, users initially had to agree not to do this, and not to share their data with anyone who had not made a similar agreement. This meant that HapMap data could not be placed into any freely available databases.
The restrictions have now been lifted, and although HapMap partners hope that haplotypes related to specific diseases will be commercialised, they also hope that the basic information will remain freely available. Researchers are already using HapMap data to look for genes involved in conditions such as type 2 diabetes, asthma and dyslexia, as well as genes that affect response to certain medications. An article in last week's Science predicted that the HapMap project will be one 'area to watch' in 2005, saying that it should 'bear fruit' before the end of the year.