Gastroesophageal Reflux GWAS Identifies Risk Loci That Also Associate with Subsequent Severe Esophageal Diseases

Overview

Journal Nat Commun

Specialty Biology

Date 2019 Sep 19

PMID 31527586

Citations 34

Authors

Jiyuan An

Puya Gharahkhani

Matthew H Law

Jue-Sheng Ong

Xikun Han

Catherine M Olsen

Rachel E Neale

John Lai

Tom L Vaughan

Ines Gockel

Rene Thieme

Anne C Bohmer

Janusz Jankowski

Rebecca C Fitzgerald

Johannes Schumacher

Claire Palles

David C Whiteman

Stuart Macgregor

Affiliations

Soon will be listed here.

Abstract

Gastroesophageal reflux disease (GERD) is caused by gastric acid entering the esophagus. GERD has high prevalence and is the major risk factor for Barrett's esophagus (BE) and esophageal adenocarcinoma (EA). We conduct a large GERD GWAS meta-analysis (80,265 cases, 305,011 controls), identifying 25 independent genome-wide significant loci for GERD. Several of the implicated genes are existing or putative drug targets. Loci discovery is greatest with a broad GERD definition (including cases defined by self-report or medication data). Further, 91% of the GERD risk-increasing alleles also increase BE and/or EA risk, greatly expanding gene discovery for these traits. Our results map genes for GERD and related traits and uncover potential new drug targets for these conditions.

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