Germline Genetic Contributions to Risk for Esophageal Adenocarcinoma, Barrett’s Esophagus, and Gastroesophageal Reflux

Submitted by: Erica CurcioGold Contributor

Source: Journal of the National Cancer Institute

Keywords:

Author(s): Weronica E. Ek, David M. Levine, Mauro D’Amato, Nancy L. Pedersen, Patrik K. E. Magnusson, Francesca Bresso, Lynn E. Onstad, Peter T. Schmidt, Hans Törnblom, Helena Nordenstedt, Yvonne Romero, Wong-Ho Chow, Liam J. Murray, Marilie D. Gammon, Geoffrey Liu, Leslie Bernstein, Alan G. Casson, Harvey A. Risch, Nicholas J. Shaheen, Nigel C. Bird, Brian J. Reid, Douglas A. Corley, Laura J. Hardie, Weimin Ye, Anna H. Wu, Marco Zucchelli, Tim D. Spector, Pirro Hysi, Thomas L. Vaughan, David C. Whiteman, Stuart MacGregor

Gastroesophageal reflux disease is a risk factor for esophageal adenocarcinoma and Barrett’s esophagus. Adenocarcinoma also may develop from Barrett’s esophagus. This multi-institutional study compares genome-wide association data to investigate the genetic architecture of esophageal adenocarcinoma, Barrett’s esophagus and gastroesophageal reflux. A high genetic correlation was found between esophageal adenocarcinoma and Barrett’s esophagus with significant polygenic overlap, which suggest that shared genes underlie the development of both lesions. On the contrary, no statistically significant results were obtained for gastroesophageal reflux.

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