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Identification of loci of functional relevance to Barrett’s esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with genetic association data

Author

Listed:
  • Julia Schröder
  • Vitalia Schüller
  • Andrea May
  • Christian Gerges
  • Mario Anders
  • Jessica Becker
  • Timo Hess
  • Nicole Kreuser
  • René Thieme
  • Kerstin U Ludwig
  • Tania Noder
  • Marino Venerito
  • Lothar Veits
  • Thomas Schmidt
  • Claudia Fuchs
  • Jakob R Izbicki
  • Arnulf H Hölscher
  • Dani Dakkak
  • Boris Jansen-Winkeln
  • Yusef Moulla
  • Orestis Lyros
  • Stefan Niebisch
  • Matthias Mehdorn
  • Hauke Lang
  • Dietmar Lorenz
  • Brigitte Schumacher
  • Rupert Mayershofer
  • Yogesh Vashist
  • Katja Ott
  • Michael Vieth
  • Josef Weismüller
  • Elisabeth Mangold
  • Markus M Nöthen
  • Susanne Moebus
  • Michael Knapp
  • Horst Neuhaus
  • Thomas Rösch
  • Christian Ell
  • Ines Gockel
  • Johannes Schumacher
  • Anne C Böhmer

Abstract

Esophageal adenocarcinoma (EA) and its precancerous condition Barrett’s esophagus (BE) are multifactorial diseases with rising prevalence rates in Western populations. A recent meta-analysis of genome-wide association studies (GWAS) data identified 14 BE/EA risk loci located in non-coding genomic regions. Knowledge about the impact of non-coding variation on disease pathology is incomplete and needs further investigation. The aim of the present study was (i) to identify candidate genes of functional relevance to BE/EA at known risk loci and (ii) to find novel risk loci among the suggestively associated variants through the integration of expression quantitative trait loci (eQTL) and genetic association data. eQTL data from two BE/EA-relevant tissues (esophageal mucosa and gastroesophageal junction) generated within the context of the GTEx project were cross-referenced with the GWAS meta-analysis data. Variants representing an eQTL in at least one of the two tissues were categorized into genome-wide significant loci (P

Suggested Citation

  • Julia Schröder & Vitalia Schüller & Andrea May & Christian Gerges & Mario Anders & Jessica Becker & Timo Hess & Nicole Kreuser & René Thieme & Kerstin U Ludwig & Tania Noder & Marino Venerito & Lothar, 2019. "Identification of loci of functional relevance to Barrett’s esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with gen," PLOS ONE, Public Library of Science, vol. 14(12), pages 1-12, December.
    • Handle: RePEc:plo:pone00:0227072
    DOI: 10.1371/journal.pone.0227072
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    References listed on IDEAS

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    2. Lizhe Zhuang & Rebecca C. Fitzgerald, 2017. "Origins in the oesophagus," Nature, Nature, vol. 550(7677), pages 463-464, October.
    3. Michael Morley & Cliona M. Molony & Teresa M. Weber & James L. Devlin & Kathryn G. Ewens & Richard S. Spielman & Vivian G. Cheung, 2004. "Genetic analysis of genome-wide variation in human gene expression," Nature, Nature, vol. 430(7001), pages 743-747, August.
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