ArticleHuman genomics2024
Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk.
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Article in Human genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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65 authors at 20 institutions in 10 countries.
Pelin ÜnalGenomic Epidemiology Group, German Cancer Research Center, In Neuenheimer Feld 280, 69120, Heidelberg, Germany.
Ye LuGenomic Epidemiology Group, German Cancer Research Center, In Neuenheimer Feld 280, 69120, Heidelberg, Germany.
Bas Bueno-de-MesquitaDepartment for Determinants of Chronic Diseases, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.
Casper H J van EijckDepartment of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Renata Talar-WojnarowskaDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Andrea SzentesiInstitute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.
Maria GazouliLaboratory of Biology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Edita KreivenaiteGastroenterology Department and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Francesca TavanoDivision of Gastroenterology and Research Laboratory, Fondazione IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, FG, Italy.
Ewa Małecka-WojcieskoDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Bálint ErőssInstitute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.
Martin OliveriusDepartment of Surgery, University Hospital Kralovske Vinohrady, Third Faculty of Medicine, Charles University, Prague, Czech Republic.
Stefania BunducCenter for Translational Medicine, Semmelweis University, Budapest, Hungary.
Mateus Nóbrega AokiLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Curitiba, PR, Brazil.
Ludmila VodickovaBiomedical Center, Faculty of Medicine in Pilsen, Charles University, Plzeň, Czech Republic.
Ugo BoggiDivision of General and Transplant Surgery, Pisa University Hospital, Pisa, Italy.
Matteo GiaccheriniDepartment of Biology, University of Pisa, Pisa, Italy.
Jurate KondrackieneGastroenterology Department and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Roger ChammasDepartment of Radiology and Oncology, Institute of Cancer of São Paulo, São Paulo, Brazil.
Orazio PalmieriDivision of Gastroenterology and Research Laboratory, Fondazione IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, FG, Italy.
George E TheodoropoulosFirst Propaedeutic University Surgery Clinic, Hippocratio General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Maarten F BijlsmaLaboratory for Experimental Oncology and Radiobiology, Center of Experimental Molecular Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.
Daniela BassoDepartment of Medicine, Laboratory Medicine, University of Padova, Padua, Italy.
Beatrice Mohelnikova-DuchonovaDepartment of Oncology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
Pavel SoucekBiomedical Center, Faculty of Medicine in Pilsen, Charles University, Plzeň, Czech Republic.
Jakob R IzbickiDepartment of General Visceral and Thoracic Surgery, University of Hamburg Medical Institutions, Hamburg, Germany.
Vytautas KiudelisGastroenterology Department and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Giuseppe VanellaPancreatoBiliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute, Milan, Italy.
Paolo Giorgio ArcidiaconoPancreatoBiliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute, Milan, Italy.
Barbara WłodarczykDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Thilo HackertDepartment of General, Visceral and Transplant Surgery, Heidelberg University Hospital, Heidelberg, Germany.
Ben SchöttkerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
Faik G UzunogluDepartment of General Visceral and Thoracic Surgery, University of Hamburg Medical Institutions, Hamburg, Germany.
Franco BambiBlood Transfusion Service, Meyer Children's Hospital, Florence, Italy.
Mara GoetzDepartment of General Visceral and Thoracic Surgery, University of Hamburg Medical Institutions, Hamburg, Germany.
Viktor HlavacBiomedical Center, Faculty of Medicine in Pilsen, Charles University, Plzeň, Czech Republic.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
Francesco PerriDivision of Gastroenterology and Research Laboratory, Fondazione IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, FG, Italy.
Silvia CarraraEndoscopic Unit, Department of Gastroenterology, IRCCS Humanitas Research Hospital, Milan, Italy.
Stefano LandiDepartment of Biology, University of Pisa, Pisa, Italy.
Péter HegyiInstitute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.
Frederike DijkDepartment of Pathology, Cancer Center Amsterdam, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Evaristo MaielloDepartment of Oncology, Fondazione IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, FG, Italy.
Giovanni CaprettiPancreatic Unit, IRCCS Humanitas Research Hospital, Milan, Italy.
Sabrina Gloria Giulia TestoniPancreatoBiliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute, Milan, Italy.
Maria Chiara PetronePancreatoBiliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute, Milan, Italy.
Hannah StockerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
Stefano ErminiBlood Transfusion Service, Meyer Children's Hospital, Florence, Italy.
Livia ArchibugiPancreatoBiliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute, Milan, Italy.
Manuel GentiluomoDepartment of Biology, University of Pisa, Pisa, Italy.
Giulia Martina CavestroGastroenterology and Gastrointestinal Endoscopy Unit, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.
Raffaele PezzilliDepartment of Gastroenterology, San Carlo Hospital, Potenza, Italy.
Gregorio Di FrancoGeneral Surgery Unit, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Anna Caterina MilanettoDepartment of Surgery, Oncology and Gastroenterology, University of Padova, Padua, Italy.
Cosimo SpertiDepartment of Surgery, Oncology and Gastroenterology, University of Padova, Padua, Italy.
John P NeoptolemosDepartment of General, Visceral and Transplant Surgery, Heidelberg University Hospital, Heidelberg, Germany.
Luca MorelliGeneral Surgery Unit, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Klara VokacovaDepartment of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic.
Claudio PasqualiDepartment of Surgery, Oncology and Gastroenterology, University of Padova, Padua, Italy.
Rita T LawlorDepartment of Diagnostics and Public Health, ARC-Net Centre for Applied Research on Cancer, University of Verona, Verona, Italy.
Francesca BazzocchiDepartment of Surgery, Fondazione IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, FG, Italy.
Juozas KupcinskasGastroenterology Department and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Gabriele CapursoPancreatoBiliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute, Milan, Italy.
Daniele CampaDepartment of Biology, University of Pisa, Pisa, Italy.
Federico CanzianGenomic Epidemiology Group, German Cancer Research Center, In Neuenheimer Feld 280, 69120, Heidelberg, Germany. f.canzian@dkfz.de.
Heidelberg University · DEUniversity of Pisa · ITCasa Sollievo della Sofferenza · ITCharles University · CZLithuanian University of Health Sciences · LTUniversity of Padua · ITVita-Salute San Raffaele University · ITMedical University of Lodz · PLUniversität Hamburg · DECTO Andrea Alesini · ITGerman Cancer Research Center · DEIRCCS Humanitas Research Hospital · ITMeyer Children's Hospital · ITNational and Kapodistrian University of Athens · GRSemmelweis University · HUUniversity of Pecs · HUCzech Academy of Sciences, Institute of Experimental Medicine · CZDutch Cancer Society · NLErasmus MC · NLFundação Carlos Chagas · BR
Funding
Cancer Research UK 29017National Institute for Cancer Research - NICR (Programme EXCELES) LX22NPO5102
Abstract
Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcinoma (PDAC). However, the strict significance threshold commonly used makes it likely that many true risk loci are missed. Functional annotation of GWAS polymorphisms is a proven strategy to identify additional risk loci. We aimed to investigate single-nucleotide polymorphisms (SNP) in regulatory regions [transcription factor binding sites (TFBSs) and enhancers] that could change the expression profile of multiple genes they act upon and thereby modify PDAC risk. We analyzed a total of 12,636 PDAC cases and 43,443 controls from PanScan/PanC4 and the East Asian GWAS (discovery populations), and the PANDoRA consortium (replication population). We identified four associations that reached study-wide statistical significance in the overall meta-analysis: rs2472632(A) (enhancer variant, OR 1.10, 95%CI 1.06,1.13, p = 5.5 × 10
Indexed as
Carcinoma, Pancreatic DuctalPancreatic NeoplasmsBinding SitesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRegulatory Sequences, Nucleic AcidTranscription FactorsTranscription FactorsAssociation studyEnhancerPancreatic cancerSingle nucleotide polymorphismTranscription factor binding site
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.