Genetic link to Barrett’s oesophagus identified for first time

UK scientists have discovered the genetic basis for why some people are more at risk of developing Barrett’s oesophagus, a condition that increases the risk of oesophageal cancer.

Regions of genetic variation have been identified on two of the twenty-two chromosomes that make up the human genome, and people who carry particular versions of the genetic code in these regions appear to have a higher risk.

The findings, published in Nature Genetics, may help scientists design screening tests to spot people with acid reflux who are at high risk of developing Barrett’s. It could also shed light on how the disease develops.

Barrett’s oesophagus is a pre-cancerous condition affecting cells lining the lower end of the oesophagus (food pipe). It is usually caused by acid reflux – when acid from the stomach leaks up into oesophagus – resulting in heartburn.

“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 Barrett’s oesophagus. These genetic variations will also form the basis for developing new targets for therapy,” said Professor Janusz Jankowski, the London-based study leader.

Dr Rebecca Fitzgerald, Cancer Research UK’s Cambridge-based oesophageal cancer expert, said the results were encouraging, but that investigations into the specific genes needs to continue in order to build up a more detailed picture.

“Most people with heartburn symptoms don’t develop Barrett’s oesophagus, so it’s very exciting to begin to get an idea of the inherited genes that seem to make individuals more susceptible,” she said.

“But further studies in more people are vital to help to confirm which genes are involved. More importantly, we need to find out exactly how such genes contribute to Barrett’s oesophagus, and it’s possible that this could give insight into how oesophageal cancer develops too.”

Copyright Press Association 2012