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Scientists team up to track genes for common diseases

7 June 2007

The results of the largest ever genome-wide search to find genes involved in seven common diseases have been published in Nature and Nature Genetics. Knowledge of how genes influence disease is useful in designing new treatments and predicting a person’s risk of ill health in the future.

The two-year long, £9 million, Wellcome Trust Case Control Consortium (WTCCC) study is an enormous collaboration involving more than 200 scientists from 50 leading genetic research teams. The collaboration was supported by funding from the Wellcome Trust, the Medical Research Council and UK charities. Patient support groups were also important partners.

Together, the geneticists analysed 17,000 DNA samples provided by people living in the UK. For each of the conditions studied, two thousand patients provided DNA. An additional three thousand healthy volunteers contributed their DNA to be used as control samples.

To date, study results have confirmed participation of previously known genes and identified new genes that play a role in development of coronary heart disease, Crohn’s disease, bipolar disorder, type 1 and type 2 diabetes, rheumatoid arthritis and hypertension.

In the study of hypertension, MRC funded scientists Professor Mark Caulfield and Dr Patricia Munroe of Barts and the London School of Medicine at Queen Mary’s collaborated with colleagues at universities in Aberdeen, Glasgow, Leicester, Oxford and Cambridge.

Professor Caulfield describes the team’s research findings: ‘‘Hypertension, also known as high blood pressure, is an incredibly common disease that affects more than one billion people worldwide. Our study has highlighted just how complex the nature of high blood pressure is as many different signals pointing to genes that could cause hypertension were found. This may simply be because there are many genes involved in elevating blood pressure. It also helps to explain why people who have hypertension need to be treated with a combination of multiple drugs.’’

It is too early for the researchers to be able to define an impact on people who have hypertension or on new ways to diagnose the disease or new therapies as a result of the genome search. However the project has identified many potential genes that could cause hypertension for scientists to focus their future research efforts upon.

Professor Caulfield concludes: ‘‘We will now be doing follow up work using DNA samples from an even wider group of people to see if we can confirm the involvement of genes in high blood pressure identified in the Wellcome Trust Case Control Consortium.’’

The results of the Wellcome Trust Case Control Consortium are published in the 7 June issue of Nature. The research paper title is Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

The 2,000 hypertensive cases in this study came from the MRC British Genetics of Hypertension Programme.

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