Gene findings flow

Monday September 10th, 2012

British researchers were unveiling new genetic findings last night, homing in on liver disease and cancer of the oesophagus.

At the Wellcome Trust Sanger Institute in Cambridge, scientists linked three new genetic regions to the disease biliary cirrhosis.

The findings mean there are currently 25 genetic regions linked to the disease, which is caused by inflammation of the bile duct and affects 0.03 per cent of the British population.

The research, reported in Nature Genetics, came out of the Encode project, which last week unveiled startling new findings about the human genetic make-up.

The scientists also used a device called the Immunochip to focus on genetic regions linked to auto-immune diseases.

Researcher Dr Carl Anderson said: "Using the Immunochip we were able to perform a much more thorough screen of the genomic regions previously associated with other autoimmune diseases.

"This resulted in us identifying a further three regions involved in primary biliary cirrhosis risk and identifying additional independent signals within some of those we already knew about."

Also in the journal scientists at Queen Mary, University of London, reported finding the first genetic cause of Barrett's oesophagus, which leads to cancer. The disease has previously been linked to drinking alcohol and eating fatty food and cases are thought to be increasing.

The researchers report finding genetic variations on chromosome 6p21 and on chromosome 16q24 linked to the disease. The findings come from a study of 660,000 genes in 1,800 patients.

Researcher Professor Janusz Jankowski said: "This is the first time a genetic link has been shown. Our findings provide a basis for genetically screening 30 per cent of the Western population who get acid reflux to see which 10 to 20 per cent of them – three per cent of the population overall – will go on to develop BE.

"These genetic variations will also form the basis for developing new targets for therapy."

Meanwhile researchers in Bristol and Paris set out new findings about how cells repair themselves. The study, reported in Nature, shows the repair process is more complex and takes more time than previously thought - including "hesitation" when proteins reach the damage.

Dr Nigel Savary, from Bristol, said: "Finding out how different parts of the genome are repaired at different rates is critical to understanding processes as diverse as generation of antibiotic resistance in bacteria and the patterns of mutations that give rise to cancer.

"Studying these processes at the level of single molecules has allowed us to detect important steps that are hidden when large numbers of molecules are studied together."

Dense fine-mapping study identifies novel disease loci and implicates coding and non-coding variation in primary biliary cirrhosis risk. Jimmy Z. Liu, Mohamed A. Almarri et al. Nature Genetics September 9 2012; DOI: 10.1038/ng.2395

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Janusz A.Z. Jankowski et al. Nature Genetics September 9 2012; doi:10.1038/10.1038/ng.2408

Tags: Cancer | Genetics | Internal Medicine | UK News

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