2016
Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis
Gharahkhani P, Fitzgerald RC, Vaughan TL, Palles C, Gockel I, Tomlinson I, Buas MF, May A, Gerges C, Anders M, Becker J, Kreuser N, Noder T, Venerito M, Veits L, Schmidt T, Manner H, Schmidt C, Hess T, Böhmer AC, Izbicki JR, Hölscher AH, Lang H, Lorenz D, Schumacher B, Hackelsberger A, Mayershofer R, Pech O, Vashist Y, Ott K, Vieth M, Weismüller J, Nöthen MM, Consortium B, Consortium E, Consortium W, Attwood S, Barr H, Chegwidden L, de Caestecker J, Harrison R, Love SB, MacDonald D, Moayyedi P, Prenen H, Watson RGP, Iyer PG, Anderson LA, Bernstein L, Chow WH, Hardie LJ, Lagergren J, Liu G, Risch HA, Wu AH, Ye W, Bird NC, Shaheen NJ, Gammon MD, Corley DA, Caldas C, Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, MacGregor S, Pharoah P, Whiteman DC, Jankowski J, Schumacher J. Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. The Lancet Oncology 2016, 17: 1363-1373. PMID: 27527254, PMCID: PMC5052458, DOI: 10.1016/s1470-2045(16)30240-6.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesNew risk lociRisk lociAssociation studiesGenome-wide significant lociNovel genetic risk variantsHigh-density single nucleotide polymorphism arraysGenome-wide significance thresholdFunctional annotation databasesMuscle cell differentiationPathway-based methodsWide association studyNovel risk lociEsophagus developmentSingle nucleotide polymorphism arrayNovel genetic markersNucleotide polymorphism arrayRelevant cellular mechanismsAnnotation enrichmentGenetic risk variantsMesenchyme developmentSignificant lociAnnotation databasesNorth AmericaGenetic markers
2015
Polymorphisms in Genes of Relevance for Oestrogen and Oxytocin Pathways and Risk of Barrett’s Oesophagus and Oesophageal Adenocarcinoma: A Pooled Analysis from the BEACON Consortium
Lagergren K, Ek WE, Levine D, Chow WH, Bernstein L, Casson AG, Risch HA, Shaheen NJ, Bird NC, Reid BJ, Corley DA, Hardie LJ, Wu AH, Fitzgerald RC, Pharoah P, Caldas C, Romero Y, Vaughan TL, MacGregor S, Whiteman D, Westberg L, Nyren O, Lagergren J. Polymorphisms in Genes of Relevance for Oestrogen and Oxytocin Pathways and Risk of Barrett’s Oesophagus and Oesophageal Adenocarcinoma: A Pooled Analysis from the BEACON Consortium. PLOS ONE 2015, 10: e0138738. PMID: 26406593, PMCID: PMC4583498, DOI: 10.1371/journal.pone.0138738.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaADP-ribosyl Cyclase 1AromataseBarrett EsophagusEsophageal NeoplasmsEstrogen Receptor alphaEstrogen Receptor betaFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMembrane GlycoproteinsOxytocinPolymorphism, Single NucleotideReceptors, OxytocinSex FactorsConceptsKey genesGenetic variantsGenes of relevanceGene-based approachesAssociation studiesGenesOxytocin pathwaysGenetic epidemiological studiesEstrogen receptor alphaRisk of OACRisk of BEPathwayReceptor alphaOesophageal adenocarcinomaBarrett's esophagusNorth AmericaReplicationPolymorphismEstrogen pathwayVariantsStrong male predominanceOAC patientsMalesBO patientsMale predominance