Disease study aims to revolutionize research

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The largest study of the genetics behind the world?s most common diseases has been deemed as the start of a new era in medical research.

The largest study of the genetics behind the world's most common diseases has been deemed as the start of a new era in medical research. The £9 million (€13.3 million) Wellcome Trust case Consortium is one of the UK's most successful academic collaborations, examining DNA samples from 17000 people, bringing together 50 leading research groups and 200 scientists in the field of human genetics. They have analysed approximately 10 billion pieces of genetic information for the underlying genetics for bipolar disorder, coronary artery disease, Crohn's disease, hypertension, rheumatoid arthritis and types 1 and 2 diabetes during the past two years. The results are published in the journals Nature and Nature Genetics.

"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, 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 personalized treatments."

The study has substantially increased the number of genes known to contribute to the development of some of our most common diseases. Many of the genes found are in areas of the genome not previously considered to have been related to the diseases.

Dr Mark Walport, director of the Wellcome Trust stated that the research shows, "that it is possible to analyse human variation in health and disease on an enormous scale. New preventive strategies and new treatments depend on a detailed understanding of the genetic, behavioural and environmental factors that conspire to cause disease."

Amongst the most significant new findings are four chromosome regions containing genes that can predispose to type 1 diabetes, and three new genes for Crohn's disease (a type of inflammatory bowel disease). The researchers have found a gene linking these two autoimmune diseases, named PTPN2.The study has also confirmed the importance of autophagy in the development of Crohn's disease. This 'self eating', is responsible for clearing unwanted material, such as bacteria, from within cells, and may be key to the interaction of gut bacteria in health and in inflammatory bowel disease, potentially having clinical significance in the future.


Research from the consortium had already played a major part in identifying the clearest genetic link yet to obesity, and three new genes linked to type 2 diabetes, published in April in advance of the main study. It has also found independently a major gene region on chromosome 9, identified by independent studies on coronary heart disease.

Further analysis by the consortium will look at tuberculosis (TB), breast cancer, autoimmune thyroid disease, multiple sclerosis and ankylosing spondylitis, with the results expected later this year.