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Researchers find first evidence for a genetic cause for Barrett's oesophagus
Date:9/9/2012

in the sequence of single nucleotides the molecules, A, T, C or G that make up DNA in two chromosomes. They then tested these two single nucleotide polymorphisms (SNPs) in a further 4,500 patients.

"After these stages, the two SNPs on chromosomes 6p21 and 16q24 showed compelling evidence that they were associated with the development of Barrett's oesophagus," said Professor Jankowski. "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.

"Given that BE is known to be a precursor to oesophageal cancer, it is quite possible that these genetic variations could also be risk factors for developing the cancer and they may give us clues as to the biological mechanisms involved."

The researchers found that one of the genetic variations was close to a gene, FOXF1, which is known to be involved in the development of the gastrointestinal tract (the oesophagus, stomach and intestines), and the other to the major histocompatability complex (MHC) region where there are genes involved with the immune system, inflammation and the sense of smell.

"Our results provide direct evidence for a genetic cause for Barrett's oesophagus," said Professor Jankowski. "Although it's not completely clear yet what roles are played by the underlying genes, the location of one of the SNPs near to the gene FOXF1 suggests there may be structural factors in the stomach and oesophagus that predispose a person to develop the condition. This is consistent with evidence that a structural deficit, namely hiatus hernia, is known to be strongly associated with BE. We also found evidence to show that SNPs that are known to be associated with increased body weight were
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Contact: Emma Mason
e.mason@qmul.ac.uk
Queen Mary, University of London
Source:Eurekalert

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