{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ali MW"],"funding":["University of Virginia","National Institute of Diabetes and Digestive and Kidney Diseases","NIDDK NIH HHS","Roswell Park Comprehensive Cancer Center","National Cancer Institute","NCI NIH HHS"],"pagination":["3975-3986"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9703807"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(23)"],"pubmed_abstract":["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 evalua"],"journal":["Human molecular genetics"],"pubmed_title":["A risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets."],"pmcid":["PMC9703807"],"funding_grant_id":["P30CA016056","P30 CA016056","R01DK128615","R01 DK128615","R01CA136725","R01 CA136725"],"pubmed_authors":["Ali MW","Yan L","Dai JY","Chen J","Vaughan TL","Buas MF","Wang X","Casey G"],"additional_accession":[]},"is_claimable":false,"name":"A risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets.","description":"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 evalua","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2026-05-29T17:37:49.241Z","creation":"2024-12-04T07:33:26.999Z"},"accession":"S-EPMC9703807","cross_references":{"pubmed":["35766871"],"doi":["10.1093/hmg/ddac141"]}}