Supportive evidence for FOXP 1, BARX 1, and FOXF 1 as genetic risk loci for the development of esophageal adenocarcinoma
Year: 2015
Type: article
Study design: Observational Study
Abstract: The Barrett's and Esophageal Adenocarcinoma Consortium (BEACON) recently performed a genome-wide association study (GWAS) on esophageal adenocarcinoma (EAC) and Barrett's esophagus. They identified genome-wide significant association for variants at three genes, namely CRTC1, FOXP1, and BARX1. Furthermore, they replicated an association at the FOXF1 gene that has been previously found in a GWAS on Barrett's esophagus. We aimed at further replicating the association at these and other loci that showed suggestive association with P < 10(-4) in the BEACON sample. In total, we tested 88 SNPs in an independent sample consisting of 1065 EAC cases and 1019 controls of German descent. We could replicate the association at FOXP1, BARX1, and FOXF1 with nominal significance and thereby confirm that genetic variants at these genes confer EAC risk. In addition, we found association of variants near the genes XRCC2 and GATA6 that were strongly (P < 10(-5) ) although not genome-wide significantly associated with the BEACON GWAS. Therefore, both variants and corresponding genes represent promising candidates for future EAC association studies on independent samples.
Source: Cancer Medicine
DOI: 10.1002/cam4.500
Authors: Jessica Becker, Andrea May, Christian Gerges, Mario Anders, Lothar Veits, Katharina Weise, Darina Czamara, Orestis Lyros, Hendrik Manner, Grischa Terheggen, Marino Venerito, Tania Noder, Rupert Mayershofer, Jan‐Hinnerk Hofer, Hans‐Werner Karch, Constantin J. Ahlbrand, Michael Arras, Sebastian Hofer, Elisabeth Mangold, Stefanie Heilmann‐Heimbach, Sophie K. M. Heinrichs, Timo Hess, Ralf Kiesslich, Jakob R. Izbicki, Arnulf H. Hölscher, Elfriede Bollschweiler, Peter Malfertheiner, Hauke Lang, Markus Moehler, Dietmar Lorenz, Bertram Müller‐Myhsok, Katja Ott, Thomas Schmidt, David C. Whiteman, Thomas L. Vaughan, Markus M. Nöthen, Andreas Hackelsberger, Brigitte Schumacher, Oliver Pech, Yogesh Vashist, Michael Vieth, Josef Weismüller, Horst Neuhaus, Thomas Rösch, Christian Ell, Ines Gockel, Johannes Schumacher
Institutions: University of Bonn, Sana Klinikum Offenbach, Evangelisches Krankenhaus Düsseldorf, Universität Hamburg, University Medical Center Hamburg-Eppendorf, Vivantes Klinikum, Bayreuth Medical Center, Max Planck Society, Max Planck Institute of Psychiatry, University Hospital Leipzig, Helios Dr. Horst Schmidt Kliniken Wiesbaden, University Hospital Magdeburg, Otto-von-Guericke-Universität Magdeburg, Johannes Gutenberg University Mainz, University Medical Center of the Johannes Gutenberg University Mainz, University of Cologne, Heidelberg University, RoMed Kliniken, QIMR Berghofer Medical Research Institute, University of Washington, Fred Hutch Cancer Center, Elisabeth-Krankenhaus Essen
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $4,700
OpenAlex ID: W1949821762