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Volume 17, Issue 10, Pages (October 2016)

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Presentation on theme: "Volume 17, Issue 10, Pages (October 2016)"— Presentation transcript:

1 Volume 17, Issue 10, Pages 1363-1373 (October 2016)
Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis  Dr Puya Gharahkhani, PhD, Rebecca C Fitzgerald, MD, Thomas L Vaughan, MD, Claire Palles, PhD, Prof Ines Gockel, MD, Ian Tomlinson, MD, Matthew F Buas, PhD, Andrea May, MD, Christian Gerges, MD, Prof Mario Anders, MD, Jessica Becker, PhD, Nicole Kreuser, BSc, Tania Noder, BN, Marino Venerito, MD, Lothar Veits, MD, Thomas Schmidt, MD, Hendrik Manner, MD, Claudia Schmidt, MD, Timo Hess, MSc, Anne C Böhmer, PhD, Prof Jakob R Izbicki, PhD, Prof Arnulf H Hölscher, MD, Prof Hauke Lang, MD, Dietmar Lorenz, MD, Brigitte Schumacher, MD, Andreas Hackelsberger, MD, Rupert Mayershofer, MD, Oliver Pech, MD, Yogesh Vashist, MD, Katja Ott, MD, Michael Vieth, MD, Josef Weismüller, MD, Prof Markus M Nöthen, MD, Stephen Attwood, MD, Hugh Barr, MD, Laura Chegwidden, MSc, John de Caestecker, MD, Rebecca Harrison, MD, Sharon B Love, MSc, David MacDonald, DDS, Paul Moayyedi, MD, Hans Prenen, MD, R G Peter Watson, MD, Prasad G Iyer, MD, Lesley A Anderson, PhD, Leslie Bernstein, PhD, Wong-Ho Chow, PhD, Laura J Hardie, PhD, Prof Jesper Lagergren, PhD, Geoffrey Liu, MD, Harvey A Risch, MD, Anna H Wu, PhD, Prof Weimin Ye, PhD, Nigel C Bird, MD, Nicholas J Shaheen, MD, Marilie D Gammon, PhD, Douglas A Corley, MD, Carlos Caldas, PhD, Prof Susanne Moebus, PhD, Michael Knapp, PhD, Wilbert H M Peters, MD, Horst Neuhaus, MD, Prof Thomas Rösch, MD, Christian Ell, MD, Stuart MacGregor, PhD, Paul Pharoah, PhD, Prof David C Whiteman, MD, Prof Janusz Jankowski, MD, Johannes Schumacher, MD  The Lancet Oncology  Volume 17, Issue 10, Pages (October 2016) DOI: /S (16) Copyright © 2016 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY license Terms and Conditions

2 Figure 1 Regional plots for loci meeting the threshold for genome-wide significance in both Barrett's oesophagus and oesophageal adenocarcinoma Regional associations for the most significantly associated single nucleotide polymorphisms (SNPs; marked as solid purple diamonds) in the combined Barrett's oesophagus and oesophageal adenocarcinoma meta-analysis (includes 10 279 patients with Barrett's oesophagus and oesophageal adenocarcinoma and 17 159 controls). Pairwise correlations (r2) between the top SNP and the other SNPs in a 400 kb flanking region are illustrated by different colours. Grey dots denote the SNPs that were not present in the reference panel that was used to calculate linkage disequilibrium between SNPs. Light orange spikes show estimated recombination rates. (A) rs on chromosome 7q31 within CFTR. (B) rs on chromosome 8p23 within MSRA. (C) rs on chromosome 8p23 within LINC00208 and BLK. (D) rs on chromosome 6q11 near KHDRBS2 and MTRNR2L9. (E) rs on chromosome 5p15 within TPPP and CEP72. (F) rs on chromosome 9q22 within TMOD1. (G) rs on chromosome 2q33 near SATB2. (H) rs on chromosome 6q26 within LPA. cM=centimorgan. The Lancet Oncology  , DOI: ( /S (16) ) Copyright © 2016 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY license Terms and Conditions

3 Figure 2 Regional plots for the oesophageal adenocarcinoma-specific locus rs near HTR3C and ABCC5 Regional associations for the most significantly associated single nucleotide polymorphism (SNP; marked as a solid purple diamond), rs , in the oesophageal adenocarcinoma meta-analysis. Pairwise correlations (r2) between the top SNP and the other SNPs in a 400 kb flanking region are illustrated by different colours. Grey dots denote the SNPs that were not present in the reference panel that was used to calculate linkage disequilibrium between SNPs. Light orange spikes show estimated recombination rates. (A) Genome-wide significance in 4112 patients with oesophageal adenocarcinoma and 13 663 controls (p=1·64 × 10−8). (B) Not significant in 6167 patients with Barrett's oesophagus and 17 159 controls (p=0·45). cM=centimorgan. The Lancet Oncology  , DOI: ( /S (16) ) Copyright © 2016 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY license Terms and Conditions


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