biostudies-literatureAli MWUniversity of VirginiaNational Institute of Diabetes and Digestive and Kidney DiseasesNIDDK NIH HHSRoswell Park Comprehensive Cancer CenterNational Cancer InstituteNCI NIH HHS3975-3986https://www.ebi.ac.uk/biostudies/studies/S-EPMC9703807biostudies-literatureUnknown31(23)Nineteen genetic susceptibility loci for esophageal adenocarcinoma (EAC) and its precursor Barrett's esophagus (BE) have been identified through genome-wide association studies (GWAS). Clinical translation of such discoveries, however, has been hindered by the slow pace of discovery of functional/causal variants and gene targets at these loci. We previously developed a systematic informatics pipeline to prioritize candidate functional variants using functional potential scores, applied the pipeline to select high-scoring BE/EAC risk loci and validated a functional variant at chr19p13.11 (rs10423674). Here, we selected two additional prioritized loci for experimental interrogation: chr3p13/rs1522552 and chr8p23.1/rs55896564. Candidate enhancer regions encompassing these variants were evaluaHuman molecular geneticsA risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets.PMC9703807P30CA016056P30 CA016056R01DK128615R01 DK128615R01CA136725R01 CA136725Ali MWYan LDai JYChen JVaughan TLBuas MFWang XCasey GfalseA risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets.Nineteen genetic susceptibility loci for esophageal adenocarcinoma (EAC) and its precursor Barrett's esophagus (BE) have been identified through genome-wide association studies (GWAS). Clinical translation of such discoveries, however, has been hindered by the slow pace of discovery of functional/causal variants and gene targets at these loci. We previously developed a systematic informatics pipeline to prioritize candidate functional variants using functional potential scores, applied the pipeline to select high-scoring BE/EAC risk loci and validated a functional variant at chr19p13.11 (rs10423674). Here, we selected two additional prioritized loci for experimental interrogation: chr3p13/rs1522552 and chr8p23.1/rs55896564. Candidate enhancer regions encompassing these variants were evalua2022-01-01T00:00:00Z2022 Nov2026-05-29T17:37:49.241Z2024-12-04T07:33:26.999ZS-EPMC97038073576687110.1093/hmg/ddac141