Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus

<p>Esophageal adenocarcinoma (EA) is an often fatal cancer with rising incidence in the developed world. Barrett’s esophagus (BE) is a pre-cancerous metaplastic precursor of EA. We performed the first genome-wide association study (GWAS) meta-analysis for BE and EA to date, using 6,167 BE case...

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Main Authors: Palles, C, Tomlinson, I, Chegwidden, L, Gharahkhani, P, MacGregor, S, Vaughan, T, Schumacher, J, Jankowski, J, Fitzgerald, R, Gockel, I, Buas, M, Knapp, M, Noethen, M, Becker, J, Pharaoh, P, Whiteman, D
Format: Journal article
Published: Elsevier 2016
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author Palles, C
Tomlinson, I
Chegwidden, L
Gharahkhani, P
MacGregor, S
Vaughan, T
Schumacher, J
Jankowski, J
Fitzgerald, R
Gockel, I
Buas, M
Knapp, M
Noethen, M
Becker, J
Pharaoh, P
Whiteman, D
author_facet Palles, C
Tomlinson, I
Chegwidden, L
Gharahkhani, P
MacGregor, S
Vaughan, T
Schumacher, J
Jankowski, J
Fitzgerald, R
Gockel, I
Buas, M
Knapp, M
Noethen, M
Becker, J
Pharaoh, P
Whiteman, D
author_sort Palles, C
collection OXFORD
description <p>Esophageal adenocarcinoma (EA) is an often fatal cancer with rising incidence in the developed world. Barrett’s esophagus (BE) is a pre-cancerous metaplastic precursor of EA. We performed the first genome-wide association study (GWAS) meta-analysis for BE and EA to date, using 6,167 BE cases, 4,112 EA cases, and 17,159 unscreened controls, all of European descent. We identified eight new genome-wide significant associated (P&lt;5×10-8) risk loci for BE and/or EA within or near CFTR, MSRA, BLK, KHDRBS2, TPPP/CEP72, TMOD1, SATB2, and HTR3C/ABCC5 genes. We identified a further novel risk locus at LPA after re-weighting results using significantly enriched annotations. Bioinformatic analysis provided further support for an involvement of the identified loci in development of BE and EA.</p>
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spelling oxford-uuid:6b429903-9518-452f-b3ea-402aa56301a32022-03-26T19:02:47ZLarge scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagusJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:6b429903-9518-452f-b3ea-402aa56301a3Symplectic Elements at OxfordElsevier2016Palles, CTomlinson, IChegwidden, LGharahkhani, PMacGregor, SVaughan, TSchumacher, JJankowski, JFitzgerald, RGockel, IBuas, MKnapp, MNoethen, MBecker, JPharaoh, PWhiteman, D<p>Esophageal adenocarcinoma (EA) is an often fatal cancer with rising incidence in the developed world. Barrett’s esophagus (BE) is a pre-cancerous metaplastic precursor of EA. We performed the first genome-wide association study (GWAS) meta-analysis for BE and EA to date, using 6,167 BE cases, 4,112 EA cases, and 17,159 unscreened controls, all of European descent. We identified eight new genome-wide significant associated (P&lt;5×10-8) risk loci for BE and/or EA within or near CFTR, MSRA, BLK, KHDRBS2, TPPP/CEP72, TMOD1, SATB2, and HTR3C/ABCC5 genes. We identified a further novel risk locus at LPA after re-weighting results using significantly enriched annotations. Bioinformatic analysis provided further support for an involvement of the identified loci in development of BE and EA.</p>
spellingShingle Palles, C
Tomlinson, I
Chegwidden, L
Gharahkhani, P
MacGregor, S
Vaughan, T
Schumacher, J
Jankowski, J
Fitzgerald, R
Gockel, I
Buas, M
Knapp, M
Noethen, M
Becker, J
Pharaoh, P
Whiteman, D
Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus
title Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus
title_full Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus
title_fullStr Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus
title_full_unstemmed Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus
title_short Large scale meta-analysis identifies new genetic risk loci for esophageal adenocarcinoma (EA) and the first EA risk locus independent of Barrett’s esophagus
title_sort large scale meta analysis identifies new genetic risk loci for esophageal adenocarcinoma ea and the first ea risk locus independent of barrett s esophagus
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