Insights into the genetics of gastroesophageal reflux disease (GERD) and GERD-related disorders

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Abstract

Gastroesophageal reflux disease (GERD) is associated with obesity and hiatal hernia, and often precedes the development of Barrett's esophagus (BE) and esophageal adenocarcinoma (EA). Epidemiological studies show that the global prevalence of GERD is increasing. GERD is a multifactorial disease with a complex genetic architecture. Genome-wide association studies (GWAS) have provided initial insights into the genetic background of GERD. The present review summarizes current knowledge of the genetics of GERD and a possible genetic overlap between GERD and BE and EA. The review discusses genes and cellular pathways that have been implicated through GWAS, and provides an outlook on how future molecular research will enhance understanding of GERD pathophysiology.

GERD has a worldwide prevalence and is the main risk factor for both Barrett's esophagus and esophageal adenocarcinoma. Here, we discuss current knowledge of the genetics of GERD and a possible genetic overlap with related disorders. We further highlight genes and cellular pathways that have been implicated in the pathophysiology of GERD.

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