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Gut . 2022 Jul 26

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

Julia Schröder, Laura Chegwidden, Carlo Maj, Jan Gehlen, Jan Speller, Anne C Böhmer, Oleg Borisov, Timo Hess, Nicole Kreuser, Marino Venerito, Hakan Alakus, Andrea May, Christian Gerges, Thomas Schmidt, Rene Thieme, Dominik Heider, Axel M Hillmer, Julian Reingruber, Orestis Lyros, Arne Dietrich, Albrecht Hoffmeister, Matthias Mehdorn, Florian Lordick, Gertraud Stocker, Michael Hohaus, Daniel Reim, Jennis Kandler, Michaela Müller, Alanna Ebigbo, Claudia Fuchs, Christiane J Bruns, Arnulf H Hölscher, Hauke Lang, Peter P Grimminger, Dani Dakkak, Yogesh Vashist, Sandra May, Siegfried Görg, Andre Franke, David Ellinghaus, Sara Galavotti, Lothar Veits, Josef Weismüller, Jens Dommermuth, Udo Benner, Thomas Rösch, Helmut Messmann, Brigitte Schumacher, Horst Neuhaus, Carsten Schmidt, Thaddäus T Wissinowski, Markus M Nöthen, Wellcome Trust Case Control Consortium 2 (WTCCC2), Esophageal Adenocarcinoma Genetics Consortium (EAGLE), Barrett's and Esophageal Adenocarcinoma Consortium (BEACON), Jing Dong, Jue-Sheng Ong, Matthew F Buas, Aaron P Thrift, Thomas L Vaughan, Ian Tomlinson, David C Whiteman, Rebecca Claire Fitzgerald, Janusz Jankowski, Michael Vieth, Andreas Mayr, Puya Gharahkhani, Stuart MacGregor, Ines Gockel, Claire Palles, Johannes Schumacher

Objective: Oesophageal cancer (EC) is the sixth leading cause of cancer-related deaths. Oesophageal adenocarcinoma (EA), with Barrett's oesophagus (BE) as a precursor lesion, is the most prevalent EC subtype in the Western world. This study aims to contribute to better understand the genetic causes of BE/EA by leveraging genome wide association studies (GWAS), genetic correlation analyses and polygenic risk modelling.

PMID: 35882562