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Scientists hail new gene discovery a landmark

Published on 07/06/07 at 01:37pm

DNA samples from 17,000 people across the UK have helped a consortium of scientists to pinpoint genes responsible for diseases such as diabetes and Crohn's disease.

The research promises to advance significantly the understanding of the genetic basis of many diseases, paving the way for new treatments.

A team of 200 scientists analysed 10 billion pieces of genetic information to identify genes which played a part in a number of complex diseases, which have, until now, been very difficult to understand.

"Many of the most common diseases are very complex, part 'nature' and 'nurture', with genes interacting with our environment and lifestyles," says Professor Peter Donnelly, Chair of the Consortium, who is based at the University of Oxford. "By identifying the genes underlying these conditions, our study should enable scientists to understand better how disease occurs, which people are most at risk and, in time, to produce more effective, more personalised treatments."

Among the most significant findings are four chromosome regions containing genes that can predispose individuals to type I diabetes, and three new genes for the Crohn's disease. For the first time, the researchers have found a gene linking these two autoimmune diseases, known as PTPN2.

The study has also confirmed the key role played by a process known as autophagy in the development of Crohn's disease. Autophagy, or "self eating", is responsible for clearing unwanted material, such as bacteria, from within cells. This may be key to the interaction of gut bacteria in health and in inflammatory bowel disease and could have clinical significance in the future.

"The link between type 1 diabetes and Crohn's disease is one of the most exciting findings to come out of the consortium," says Professor John Todd from the University of Cambridge, who led the study into type I diabetes. "It is a promising avenue for us to understand how the two diseases occur. The pathways that lead to Crohn's disease are increasingly well understood and we hope that progress in treating Crohn's disease may give us clues on how to treat type 1 diabetes in the future."

Professor Donnelly admitted that human genetics had had a chequered history of irreproducible results, but claimed the new British study showed conclusively that analysing  large amounts of genetic variants had paid dividends.

"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," he said.

DNA samples were taken from 2,000 patients for each disease and 3,000 control samples - to identify common genetic variations for bipolar disorder, Crohn's disease, coronary heart disease, hypertension, rheumatoid arthritis, type I and type II diabetes. For each disease, the researchers will study larger population samples to confirm their results.


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