Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians.

Autor: Piccardi M; Department of Biology, Unit of Genetics, University of Pisa, Via Derna 1, 56126, Pisa, Italy., Gentiluomo M; Department of Biology, Unit of Genetics, University of Pisa, Via Derna 1, 56126, Pisa, Italy., Bertoncini S; Department of Biology, Unit of Zoology and Anthropology, University of Pisa, Pisa, Italy., Pezzilli R; Potenza County Medical Association, Potenza, Italy., Erőss B; Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary., Bunduc S; Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.; Center for Translational Medicine, Semmelweis University, Budapest, Hungary.; Division of Pancreatic Diseases, Heart and Vascular Center, Semmelweis University, Budapest, Hungary.; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania., Uzunoglu FG; Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Talar-Wojnarowska R; Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland., Vanagas T; Department of Surgery, Lithuanian University of Health Sciences, Kaunas, Lithuania., Sperti C; Department DISCOG, Chirurgia Generale 1, University of Padova, Padua, Italy., Oliverius M; Department of Surgery, Third Faculty of Medicine, University Hospital Kralovske Vinohrady, Charles University, Prague, Czech Republic., Aoki MN; Laboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Curitiba, Brazil., Ermini S; Blood Transfusion Service, Azienda Ospedaliero-Universitaria Meyer, Children's Hospital, Florence, Italy., Hussein T; Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary., Boggi U; Division of General and Transplantation Surgery, University of Pisa, Pisa, Italy., Jamroziak K; Department of Hematology, Transplantation and Internal Medicine, University of Warsaw, Warsaw, Poland., Maiello E; Department of Oncology, Fondazione IRCCS 'Casa Sollievo Della Sofferenza' Hospital, San Giovanni Rotondo, Foggia, Italy., Morelli L; Department of Translational Research and New Technologies in Medicine and Surgery, General Surgery Unit, University of Pisa, Pisa, Italy., Vodickova L; Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic.; Biomedical Center, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic., Di Franco G; Department of Translational Research and New Technologies in Medicine and Surgery, General Surgery Unit, University of Pisa, Pisa, Italy., Landi S; Department of Biology, Unit of Genetics, University of Pisa, Via Derna 1, 56126, Pisa, Italy., Szentesi A; Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.; Center for Translational Medicine, Semmelweis University, Budapest, Hungary.; János Szentágothai Research Center, University of Pécs, Pécs, Hungary., Lovecek M; Department of Surgery I, University Hospital Olomouc, Olomouc, Czech Republic., Puzzono M; Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy., Tavano F; Division of Gastroenterology and Research Laboratory, Fondazione IRCCS 'Casa Sollievo Della Sofferenza' Hospital, San Giovanni Rotondo, Foggia, Italy., van Laarhoven HWM; Department of Medical Oncology, Amsterdam UMC, Cancer Center Amsterdam, University of Amsterdam, Amsterdam, The Netherlands., Zerbi A; Pancreatic Unit, IRCCS Humanitas Research Hospital, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Milan, Italy., Mohelnikova-Duchonova B; Department of Oncology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic., Stocker H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Network Aging Research (NAR), Heidelberg University, Heidelberg, Germany., Costello E; Department of Molecular & Clinical Cancer Medicine, University of Liverpool, Liverpool, UK., Capurso G; Digestive and Liver Disease Unit, S Andrea Hospital, Rome, Italy.; Pancreas Translational and Clinical Research Center, Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, San Raffaele Scientific Institute IRCCS, Milan, Italy., Ginocchi L; Oncological Department, Oncology of Massa Carrara, ASL Toscana Nord Ovest, Massa Carrara, Italy., Lawlor RT; ARC-NET Research Centre and Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Verona, Italy., Vanella G; Digestive and Liver Disease Unit, S Andrea Hospital, Rome, Italy.; Pancreas Translational and Clinical Research Center, Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, San Raffaele Scientific Institute IRCCS, Milan, Italy., Bazzocchi F; Department of Surgery, Fondazione IRCCS 'Casa Sollievo Della Sofferenza' Hospital, San Giovanni Rotondo, Foggia, Italy., Izbicki JR; Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Latiano A; Division of Gastroenterology and Research Laboratory, Fondazione IRCCS 'Casa Sollievo Della Sofferenza' Hospital, San Giovanni Rotondo, Foggia, Italy., Bueno-de-Mesquita B; Centre for Nutrition, Prevention and Health Services, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands., Ponz de Leon Pisani R; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute IRCCS, Milan, Italy., Schöttker B; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Network Aging Research (NAR), Heidelberg University, Heidelberg, Germany., Soucek P; Biomedical Center, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., Hegyi P; Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.; Center for Translational Medicine, Semmelweis University, Budapest, Hungary.; Division of Pancreatic Diseases, Heart and Vascular Center, Semmelweis University, Budapest, Hungary.; János Szentágothai Research Center, University of Pécs, Pécs, Hungary., Gazouli M; Laboratory of Biology, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Hackert T; Department of General, Visceral, and Transplantation Surgery, University of Heidelberg, Heidelberg, Germany., Kupcinskas J; Department of Gastroenterology and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania., Poskiene L; Department of Pathology, Lithuanian University of Health Sciences, Kaunas, Lithuania., Tacelli M; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute IRCCS, Milan, Italy., Roth S; Department of General, Visceral, and Transplantation Surgery, University of Heidelberg, Heidelberg, Germany., Carrara S; Department of Gastroenterology, Endoscopic Unit, IRCCS Humanitas Research Hospital, Milan, Italy., Perri F; Division of Gastroenterology and Research Laboratory, Fondazione IRCCS 'Casa Sollievo Della Sofferenza' Hospital, San Giovanni Rotondo, Foggia, Italy., Hlavac V; Biomedical Center, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., Theodoropoulos GE; First Department of Propaedeutic Surgery, Hippocration General Hospital, National and Kapodistrian University of Athens, Athens, Greece., Busch OR; Department of Surgery, Amsterdam UMC, Cancer Center Amsterdam, University of Amsterdam, Amsterdam, the Netherlands., Mambrini A; Oncological Department, Oncology of Massa Carrara, ASL Toscana Nord Ovest, Massa Carrara, Italy., van Eijck CHJ; Department of Surgery, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Arcidiacono P; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute IRCCS, Milan, Italy., Scarpa A; ARC-NET Research Centre and Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Verona, Italy., Pasquali C; Department DISCOG, Chirurgia Generale 3, University of Padova, Padua, Italy., Basso D; Department DIMED, Laboratory Medicine, University of Padova, Padua, Italy., Lucchesi M; Oncological Department, Oncology of Massa Carrara, ASL Toscana Nord Ovest, Massa Carrara, Italy., Milanetto AC; Department DISCOG, Chirurgia Generale 3, University of Padova, Padua, Italy., Neoptolemos JP; Department of General, Visceral, and Transplantation Surgery, University of Heidelberg, Heidelberg, Germany., Cavestro GM; Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy., Janciauskas D; Department of Pathology, Lithuanian University of Health Sciences, Kaunas, Lithuania., Chen X; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany., Chammas R; Department of Radiology and Oncology, Institute of Cancer of São Paulo (ICESP) São Paulo, Sao Paulo, Brazil.; Faculty of Medicine, University of São Paulo, São Paulo, Brazil., Goetz M; Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Archibugi L; Digestive and Liver Disease Unit, S Andrea Hospital, Rome, Italy.; Pancreas Translational and Clinical Research Center, Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, San Raffaele Scientific Institute IRCCS, Milan, Italy., Dannemann M; Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia., Canzian F; Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany., Tofanelli S; Department of Biology, Unit of Zoology and Anthropology, University of Pisa, Pisa, Italy., Campa D; Department of Biology, Unit of Genetics, University of Pisa, Via Derna 1, 56126, Pisa, Italy. daniele.campa@unipi.it.
Jazyk: angličtina
Zdroj: Biological research [Biol Res] 2023 Aug 13; Vol. 56 (1), pp. 46. Date of Electronic Publication: 2023 Aug 13.
DOI: 10.1186/s40659-023-00457-y
Abstrakt: Background: The genomes of present-day non-Africans are composed of 1-3% of Neandertal-derived DNA as a consequence of admixture events between Neandertals and anatomically modern humans about 50-60 thousand years ago. Neandertal-introgressed single nucleotide polymorphisms (aSNPs) have been associated with modern human disease-related traits, which are risk factors for pancreatic ductal adenocarcinoma (PDAC), such as obesity, type 2 diabetes, and inflammation. In this study, we aimed at investigating the role of aSNPs in PDAC in three Eurasian populations.
Results: The high-coverage Vindija Neandertal genome was used to select aSNPs in non-African populations from 1000 Genomes project phase 3 data. Then, the association between aSNPs and PDAC risk was tested independently in Europeans and East Asians, using existing GWAS data on more than 200 000 individuals. We did not find any significant associations between aSNPs and PDAC in samples of European descent, whereas, in East Asians, we observed that the Chr10p12.1-rs117585753-T allele (MAF = 10%) increased the risk to develop PDAC (OR = 1.35, 95%CI 1.19-1.54, P = 3.59 × 10 -6 ), with a P-value close to a threshold that takes into account multiple testing.
Conclusions: Our results show only a minimal contribution of Neandertal SNPs to PDAC risk.
(© 2023. Sociedad de Biologia de Chile.)
Databáze: MEDLINE
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