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University of Manchester researchers reveal clues to new genes behind rheumatoid arthritis

illion WTCCC has been one of the UK's largest and most successful academic collaborations to date, involving 50 leading research groups and over 200 scientists in the field of human genetics from dozens of institutions. For these papers, part of a number of studies due to be published over the next year, the researchers analysed 17,000 DNA samples taken from people in the UK - two thousand patients for each disease and three thousand control samples - to identify common genetic variations for seven major diseases.

Although the human genome is made up of more than three billion sub-units of DNA, called nucleotides (or bases), most of these show little in the way of differences between individuals. The International HapMap Consortium and related efforts demonstrated that a substantial part of the variation in DNA sequence between individuals is due to single-nucleotide polymorphisms (differences), also known as SNPs. There are approximately 8 million common SNPs in European populations. Fortunately, because SNPs that lie close together on chromosomes often tell quite similar stories, researchers in the WTCCC were able to explore this variation through analysing a subset of these SNPs (in fact approximately 500,000).

"Human genetics has a chequered history of irreproducible results, but this landmark collaboration of scientists in Britain has shown conclusively that the new approach of analysing a large subset of genetic variants in large samples of patients and healthy individuals works," says Professor Donnelly. "We are now able to effectively scan most of the common variation in the human genome to look for variants associated with diseases. This approach will undoubtedly herald major advances in how we understand and tackle disease in the future."

The findings have been welcomed by Dr Mark Walport, Director of the Wellcome Trust, the UK's largest medical research charity. The Wellcome Trust not only funded the WTCCC, but also co-fund
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Contact: Mikaela Sitford
Mikaela.Sitford@manchester.ac.uk
01-612-752-111
University of Manchester
7-Jun-2007


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