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Gastroesophageal Reflux Disease, Genetic Testing

Gastroesophageal reflux disease (GERD) is a chronic condition in which stomach acid flows back into the esophagus, causing irritation and inflammation. Common symptoms include heartburn and reflux. Lifestyle modifications, medications, and, in some cases, surgery are used to manage acid reflux and prevent complications such as esophagitis or Barrett's esophagus. The assessment of the Polygenic Index Score for gastroesophageal reflux disease is based on the examination of 85 gene polymorphisms.

Genetic testing for gastroesophageal reflux disease is included along with 14 other diseases in the Genetic Screening for Gastrointestinal Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

The leading cause of gastroesophageal reflux disease is dysfunction of the lower esophageal sphincter, a ring of muscle fibers that connects the stomach to the esophagus and prevents gastric fluids from rising. In addition to genetic factors, several environmental factors can significantly increase the risk:

  • Alcohol consumption
  • Smoking
  • Presence of hiatal hernia
  • Obesity and overweight
  • Pregnancy
  • Scleroderma, a disorder that causes the accumulation of fibrous tissue
  • Lying down immediately after food intake
  • Regular intake of foods rich in fats or sugars

The most common symptoms are the following:

  • The burning sensation in the chest is usually more pronounced after ingestion of food and worse at bedtime
  • Backflow of acid or sour liquid into the upper gastrointestinal tract
  • Pain in the chest or upper abdomen
  • Dysphagia, difficulty swallowing
  • The sensation of a lump in the throat
  • Chronic cough
  • Laryngitis

Modifying risk factors is the best way to prevent the onset of GERD and minimize its symptoms. This includes maintaining a healthy weight and regular physical exercise, avoiding tobacco and alcohol, reducing the intake of fatty foods (especially at night), not abusing certain medications such as non-steroidal anti-inflammatory drugs, and waiting a reasonable amount of time between eating and going to bed. Most of those affected respond to lifestyle changes and medications.

Additional information
Results Time4 - 5 Weeks
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