Research highlight

Variants associated with Barrett’s esophagus

Nature Genetics

September 10, 2012

Genetic variants associated with Barrett’s esophagus are reported in a study published online this week in Nature Genetics. Barrett’s esophagus, a common premalignant condition associated with acid reflux and damage of the esophagus lining, is a risk factor for esophageal adenocarcinoma, a cancer with a high mortality rate.

Peter Donnelly and colleagues report the first genome-wide association study for Barrett’s esophagus, including 1,852 cases and 5,172 controls, with replication in 5,986 cases and 12,825 controls. They identity two genomic regions associated with Barrett’s esophagus and suggest a role for structural factors in the esophagus and stomach in susceptibility. The authors also find evidence of shared genetic effects between Barrett’s esophagus and body weight measures, which may explain previously established connection between this disorder and obesity.

doi: 10.1038/ng.2408

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