An international project to map common patterns of genetic variation in humans has been launched, and the University of Oxford is the only UK university chosen to be involved. The HapMap project is an international collaboration which will study patterns of genetic variation in populations in Asia, Africa, Europe, and North America.
'The HapMap project is the successor to the human genome project,' said Peter Donnelly in the Department of Statistics at Oxford. 'The human genome project mapped one copy of the human genome. At 99.9% of places on the genome we all share the same DNA. The next stage is to understand the other bits – the differences between individuals. That's what HapMap is doing.'
An international competition was held to fund analysis groups in the HapMap project, and three grants were awarded worldwide. Two of these were awarded to researchers at the University of Oxford: Professor Lon Cardon at the Wellcome Trust Centre for Human Genetics, and Professor Donnelly and colleagues in the Department of Statistics.
Our individual predisposition to disease and our response to medicine are, in part, encoded within our DNA, in the differences (called single-nucleotide polymorphisms, or SNPs) scattered through our genetic sequences. We tend to share regions of similar SNPs with other humans. Many of these regions can be 'tagged' by identifying SNPs that are characteristic of the region – it is these tags that HapMap is looking for.
'Imagine you knew a group of people who always took the same bus to work. If you looked one day and one of them was on the bus, you could be reasonably confident that the others were also on the bus without having to look further,' explains Professor Donnelly. 'In the same way, just by checking whether one 'tagging' SNP is present on a chromosome, you can be reasonably confident that others will also be present without having to spend a lot of time and money searching for them.'
The HapMap project will define these 'tags' in multiple populations, and define the regions of the genome where they are located. The map will mean that when researchers want to find regions of the genome associated with disease and health, they will not have to search through the 10 million SNPs in the entire human genome, but instead will be able to focus in on around 500,000 SNPs.
Dr Mark Walport, Director of the Wellcome Trust, said: 'The Wellcome Trust invests in tools for health to benefit populations world-wide. The HapMap is one of these – a tool that will help researchers to find genes contributing to some of our most important diseases, such as cancer and heart disease. Although not in itself designed to uncover these genetic foundations, the HapMap will dramatically speed the search for genetic foundations of human health. Its public availability is a cornerstone of the commitment of the Wellcome Trust to bring benefit from the human genome sequence.'
Professor Lon Cardon said: 'The HapMap project will provide an invaluable resource for a wide range of medical and genetic research, and has the potential to greatly facilitate advances in our understanding of human disease. The groups contributing to this international project will release the data and the resulting map of variation as a public resource. In that way, we anticipate the maximum medical benefit will accrue in the most rapid fashion.'
Notes to Editors:
* 'HapMap' is short for 'haplotype map'. A haplotype is the collection of genetic variants carried along a region of a chromosome.
* UK centres are at: The Wellcome Trust Sanger Institute (Dr David Bentley: DNA sequence and genotyping); The Wellcome Trust Centre for Human Genetics, Oxford University (Professor Lon Cardon: analysis); and the University of Oxford Department of Statistics (Professor Peter Donnelly: analysis).
* The official website for the HapMap project is: http://www.hapmap.org
* The project involves researchers in Canada, China, Japan, Nigeria, UK and USA. It will use samples from 270 individuals from populations of: Yorubans in Nigeria; Japanese; Han Chinese; and US residents with ancestry from northern and western Europe. Patterns of variation will be extracted from study of the SNPs present in each of these individuals. Those patterns will provide a basis on which to find the tag SNPs that most efficiently describe the patterns; these tag SNPs are the major resource of the project.
* The Oxford researchers are funded by the Wellcome Trust, the US NIH (National Institute for Health,) and the SNP consortium.
* The US$120m project was officially announced in October 2002 and is expected to take three years to complete. It was launched on 18 December 2003.
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