Researchers Find 3 Genes Linked to Esophagus Disorders

TUESDAY, July 26 (HealthDay News) — Mutations in three genes have been found to be more common among people with disorders of the esophagus, including esophageal cancer and Barrett esophagus (a complication of gastroesophageal reflux disease), a new study shows.

The findings could help identify those at greater risk for these conditions and lead to improved treatments, researchers from the Cleveland Clinic said in the report published in the July 27 issue of the Journal of the American Medical Association.

“Finding predisposition genes may improve premorbid risk assessment, genetic counseling and management,” Dr. Charis Eng and colleagues wrote.

The developments are significant because in the United States and Europe, cases of esophageal cancer have surged 350 percent over the past 40 years and Barrett esophagus (which is believed to precede the cancer) affects 10 percent of the population, the authors explained in a journal news release.

In conducting the study, the investigators pinpointed three major genes — known as MSR1, ASCC1 and CTHRC1 — associated with both esophageal cancer and Barrett esophagus.

Out of 116 patients analyzed, mutations in these three genes were found in 13 people. “These three genes together accounted for 11 percent of our cases, reflecting what is normally considered a moderate- to high-penetrance genetic load for a disease,” Eng’s team wrote.

The study authors pointed out, however, that further research is needed to support the findings. They added that larger studies might also be needed to explore how these genes can be used to diagnose or assess patients’ risk for disorders of the esophagus.

The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong.

The most common problem with the esophagus is gastroesophageal reflux disease(GERD). It happens when a band of muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux into, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus. Other problems include heartburn and cancer.

Treatment depends on the problem. Some get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.