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Barrett’s esophagus, esophageal cancer linked to four genetic variants
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Four genetic variants are associated with increased risk for esophageal adenocarcinoma and Barrett’s esophagus, according to results of a pooled analysis.
“Epidemiologic findings, largely based on the work of Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON) investigators, clearly demonstrate that environmental factors such as obesity, gastroesophageal reflux, smoking and diet are largely responsible for the rapidly increasing incidence and mortality from esophageal adenocarcinoma,” researcher Thomas L. Vaughan, MD, MPH, BEACON’s chair and member of the epidemiology program in public health sciences division at Fred Hutchinson Cancer Research Center in Seattle, said in a press release. “However, a growing body of evidence also suggests an important role for inherited susceptibility.”
Thomas L. Vaughan
Vaughan and colleagues evaluated genomic data from 2,390 patients with esophageal adenocarcinoma and 3,175 patients with Barrett’s esophagus. The analysis also included more than 10,000 individuals without these conditions who served as controls.
Researchers determined genetic variations on chromosome 19 (OR=1.18; 95% CI, 1.12-1.24), chromosome 9 (OR=0.83; 95% CI, 0.79-0.88) and chromosome 3 (OR=1.18; 95% CI, 1.12-1.25) were significantly associated with increased combined risk for esophageal cancer and Barrett’s esophagus.
In addition, genetic variations on chromosome 16 — which previous research had linked to Barrett’s esophagus — also is associated with esophageal adenocarcinoma (OR=1.12; 95% CI, 1.01-1.27).
“These findings establish strong starting points for further epidemiologic studies to pin down the causal variants, and laboratory studies to identify the mechanisms by which the causal variants might affect the development of Barrett’s esophagus and esophageal adenocarcinoma,” Vaughan said. “The fact that all four of the new loci are in or near genes associated with early development of the esophagus or already associated with oncogenic activity is particularly exciting, as it implies that we may be close to finding some important pathways in the development of this highly fatal disease.”
Disclosure: The researchers report no relevant financial disclosures.
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