Genetic Risk Loci, Biomarkers, and Lifestyle Risk Factors in Barrett’s Esophagus and Cancer

Genetic Risk Loci, Biomarkers, and Lifestyle Risk Factors in Barrett’s Esophagus and Cancer

Prateek Sharma, MD, FASGE, reviewing Schröder J, et al. Gut 2022 Jul 26.

Genome-wide association studies (GWAS) involve scanning the DNA of a large cohort to identify any genetic variants associated with the disease in question. Previous GWAS of esophageal adenocarcinoma (EAC) and Barrett’s esophagus (BE) have identified 15 genetic risk loci and determined them to be associated with EAC, BE, or both. 

This meta-analysis used 6 GWAS cohorts, totaling 16,790 patients (11,208 with BE and 5582 with EAC) and 32,476 controls. When analyzed together, 27 risk loci were identified. Of these, 16 are new BE and/or EAC risk loci, and 11 are entirely novel. A cross-trait linkage disequilibrium score regression was used to observe the genetic correlation of BE/EAC with lifestyle risk factors, including GERD, hiatal hernia, obesity, educational attainment, alcohol intake, and smoking. There was a significantly higher genetic correlation between GERD and BE than between GERD and EAC.

Prateek Sharma, MD, FASGE


This meta-analysis identified new risk loci associated with Barrett’s esophagus and esophageal adenocarcinoma, increasing current genetic knowledge regarding potential biomarkers and the influence of some lifestyle risk factors in disease development. These results also show that underlying genetic risk factors for GERD have more of an effect on the development of BE than on the progression of cancer to EAC.



Note to readers: At the time we reviewed this paper, its publisher noted that it was not in final form and that subsequent changes might be made.


Schröder J, Chegwidden L, Maj C, et al. GWAS meta-analysis of 16 790 patients with Barrett’s oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease aetiology beyond the single marker level. Gut 2022 Jul 26. (Epub ahead of print) (

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