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

A C Böhmer; J Schumacher

doi:10.1111/nmo.13017

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

Neurogastroenterol Motil. 2017 Feb;29(2). doi: 10.1111/nmo.13017.

Authors

A C Böhmer^{1

2}, J Schumacher¹

Affiliations

¹ Institute of Human Genetics, University of Bonn, Bonn, Germany.
² Department of Genomics, Life and Brain Research Center, University of Bonn, Bonn, Germany.

PMID: 28132438
DOI: 10.1111/nmo.13017

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.

Keywords: barrett’s esophagus; esophageal adenocarcinoma; gastroesophageal reflux disease; genome-wide association studies, shared genetic etiology.

Publication types

Review

MeSH terms

Barrett Esophagus / diagnosis
Barrett Esophagus / genetics
Barrett Esophagus / physiopathology
Gastroesophageal Reflux / diagnosis
Gastroesophageal Reflux / genetics*
Gastroesophageal Reflux / physiopathology*
Genome-Wide Association Study* / methods
Humans
Risk Factors