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.’

For more information contact the Press Office, 01865 280532,
press.office@admin.ox.ac.uk

Additional Notes:

• ‘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:
  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.