Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus

Esophageal adenocarcinoma (EA) is an often fatal cancer with rising incidence in the developed world. Barrett’s esophagus (BE) is a pre-cancerous metaplastic precursor of EA. We performed the first genome-wide association study (GWAS) meta-analysis for BE and EA to date, using 6,167 BE cases, 4,112 EA cases, and 17,159 unscreened controls, all of European descent. We identified eight new genome-wide significant associated (P<5×10-8) risk loci for BE and/or EA within or near CFTR, MSRA, BLK, KHDRBS2, TPPP/CEP72, TMOD1, SATB2, and HTR3C/ABCC5 genes. We identified a further novel risk locus at LPA after re-weighting results using significantly enriched annotations. Bioinformatic analysis provided further support for an involvement of the identified loci in development of BE and EA.