Genetic variations that are linked with the onset of Barrett's oesophagus (BE), a pre-cancerous condition of the lower end of the gullet, have been identified for the first time. The discovery of variations in regions on two chromosomes makes it possible to develop screening tests for people at high risk of developing the disease.
Although it's been thought for some time that there may be genetic causes for BE as well as environmental ones, such as drinking alcohol and eating fatty food, so far researchers have not found any genetic variations that are associated with the condition.
Now, a multi-national team of researchers led by Professor Janusz Jankowski of the Blizard Institute of Cell and Molecular Science at Queen Mary, University of London (UK), has identified genetic variations on chromosome 6p21 and on chromosome 16q24. Their research is published online today (Sunday) in Nature Genetics .
BE  is a condition in which abnormal changes occur in cells lining the lower end of the gullet. It is usually caused by acid reflux and the incidence has been increasing over the past few years, with 10-20 per cent of patients with acid reflux developing BE. It can progress to become Barrett's dysplasia, when the cells become pre-cancerous, and can then develop into oesophageal adenocarcinoma (cancer). Five-year survival following a diagnosis of adenocarcinoma is less than 15 per cent, and so it is important to detect and treat the conditions while they are still in their early stages.
Professor Jankowski and colleagues, from over 100 centres in the UK and 20 more around the world, conducted a genome-wide analysis in which they analysed 660,000 genetic variations in 1,800 patients with BE and tested the top 200,000 genetic variations in another set of 1,105 patients, comparing them with large groups of people (over 5,000 in total), acting as controls, who did not have BE. During this process they identified variations
|Contact: Emma Mason|
Queen Mary, University of London