Potential association between PSCA rs2976395 functional variant and pancreatic cancer risk.

Autor: Corradi C; Department of Biology, University of Pisa, Pisa, Italy., Lencioni G; Department of Biology, University of Pisa, Pisa, Italy., Felici A; Department of Biology, University of Pisa, Pisa, Italy., Rizzato C; Department of Biology, University of Pisa, Pisa, Italy., Gentiluomo M; Department of Biology, University of Pisa, Pisa, Italy., Ermini S; Blood Transfusion Service, Azienda Ospedaliera-Universitaria Meyer, Children's Hospital, Florence, Italy., Archibugi L; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, IRSSC San Raffaele Scientific Institute, Milan, Italy.; Digestive and Liver Disease Unit, Sant'Andrea Hospital, Rome, Italy., Mickevicius A; Department of Surgery, Lithuanian University of Health Sciences, Kaunas, Lithuania., Lucchesi M; Oncology of Massa Carrara, Oncological Department, Azienda USL Toscana Nord Ovest, Carrara, Italy., Malecka-Wojciesko E; Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland., Basso D; Laboratory Medicine, Department DIMED, University of Padova, Padua, Italy., Arcidiacono PG; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, IRSSC San Raffaele Scientific Institute, Milan, Italy., Petrone MC; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, IRSSC San Raffaele Scientific Institute, Milan, Italy., Carrara S; Endoscoopic Unit, Gastroenterology Department, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Götz M; Department of General, Visceral and Thoracic Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Bunduc S; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Digestive Diseases and Liver Transplantation Center, Fundeni Clinical Institute, Bucharest, Romania.; Center for Translational Medicine, Semmelweis University, Budapest, Hungary.; Division of Pancreatic Diseases, Heart and Vascular Center, Semmelweis University, Budapest, Hungary., Holleczek B; Saarland Cancer Registry, Saarbrücken, Germany., Aoki MN; Laboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba, Parana, Brazil., Uzunoglu FG; Department of General, Visceral and Thoracic Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Zanette DL; Laboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba, Parana, Brazil., Mambrini A; Oncology of Massa Carrara, Oncological Department, Azienda USL Toscana Nord Ovest, Carrara, Italy., Jamroziak K; Department of Hematology, Transplantation and Internal Medicine, Medical University of Warsaw, Warsaw, Poland., Oliverius M; Department of Surgery, University Hospital Kralovske Vinohrady, Third Faculty of Medicine, Charles University, Prague, Czech Republic., Lovecek M; University Hospital Olomouc, Olomouc, Czech Republic., Cavestro GM; Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy., Milanetto AC; Department of DiSCOG, University of Padova, Padua, Italy., Peduzzi G; Department of Biology, University of Pisa, Pisa, Italy., Duchonova BM; Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, Czech Republic., Izbicki JR; Department of General, Visceral and Thoracic Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Zalinkevicius R; Clinics of Institute of Endocrinology, Lithuanian University of Health Sciences, Kaunas, Lithuania., Hlavac V; Faculty of Medicine in Pilsen, Biomedical Center, Charles University, Pilsen, Czech Republic., van Eijck CHJ; Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands., 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., Vanella G; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, IRSSC San Raffaele Scientific Institute, Milan, Italy.; Digestive and Liver Disease Unit, Sant'Andrea Hospital, Rome, Italy., Vokacova K; Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic., Soucek P; Faculty of Medicine in Pilsen, Biomedical Center, Charles University, Pilsen, Czech Republic., Tavano F; Division of Gastroenterology and Research Laboratory, Fondazione IRCCS 'Casa Sollievo della Sofferenza' Hospital, San Giovanni Rotondo, Italy., Perri F; Division of Gastroenterology and Research Laboratory, Fondazione IRCCS 'Casa Sollievo della Sofferenza' Hospital, San Giovanni Rotondo, Italy., Capurso G; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, IRSSC San Raffaele Scientific Institute, Milan, Italy.; Digestive and Liver Disease Unit, Sant'Andrea Hospital, Rome, Italy., Hussein T; Center for Translational Medicine, Semmelweis University, Budapest, Hungary.; Division of Pancreatic Diseases, Heart and Vascular Center, Semmelweis University, Budapest, Hungary., Kiudelis M; Department of Surgery, Lithuanian University of Health Sciences, Kaunas, Lithuania., Kupcinskas J; Gastroenterology Department, Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania., Busch OR; Department of Surgery, Amsterdam UMC, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands., Morelli L; General Surgery, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy., Theodoropoulos GE; First Propaedeutic University Surgery Clinic, Hippocratio General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Testoni SGG; Pancreato-Biliary Endoscopy and Endoscopic Ultrasound, Pancreas Translational and Clinical Research Center, IRSSC San Raffaele Scientific Institute, Milan, Italy., Adamonis K; Gastroenterology Department, Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.; Department of Surgery, Amsterdam UMC, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands., Neoptolemos JP; First Propaedeutic University Surgery Clinic, Hippocratio General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Gazouli M; Department of Basic Medical Sciences, Laboratory of Biology, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Pasquali C; Department of DiSCOG, University of Padova, Padua, Italy., Kormos Z; Division of Pancreatic Diseases, Heart and Vascular Center, Semmelweis University, Budapest, Hungary., Skalicky P; University Hospital Olomouc, Olomouc, Czech Republic., Pezzilli R; Potenza County Medical Association, Potenza, Italy., Sperti C; Department of DiSCOG, University of Padova, Padua, Italy., Kauffmann E; Division of General and Transplant Surgery, Pisa University Hospital, Pisa, Italy., Büchler MW; Department of General Surgery, University of Heidelberg, Heidelberg, Germany., Schöttker B; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany., Hegyi P; Center for Translational Medicine, Semmelweis University, Budapest, Hungary.; Division of Pancreatic Diseases, Heart and Vascular Center, Semmelweis University, Budapest, Hungary.; Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.; János Szentágothai Research Center, University of Pécs, Pécs, Hungary., Capretti G; Pancreatic Surgery Department, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.; Humanitas University, Rozzano, Milan, Italy., Lawlor RT; ARC-NET Centre for Applied Research on Cancer, University and Hospital Trust of Verona, Verona, Italy., Canzian F; Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany., Campa D; Department of Biology, University of Pisa, Pisa, Italy.
Jazyk: angličtina
Zdroj: International journal of cancer [Int J Cancer] 2024 Oct 15; Vol. 155 (8), pp. 1432-1442. Date of Electronic Publication: 2024 Jun 26.
DOI: 10.1002/ijc.35046
Abstrakt: Correlated regions of systemic interindividual variation (CoRSIV) represent a small proportion of the human genome showing DNA methylation patterns that are the same in all human tissues, are different among individuals, and are partially regulated by genetic variants in cis. In this study we aimed at investigating single-nucleotide polymorphisms (SNPs) within CoRSIVs and their involvement with pancreatic ductal adenocarcinoma (PDAC) risk. We analyzed 29,099 CoRSIV-SNPs and 133,615 CoRSIV-mQTLs in 14,394 cases and 247,022 controls of European and Asian descent. We observed that the A allele of the rs2976395 SNP was associated with increased PDAC risk in Europeans (p = 2.81 × 10 -5 ). This SNP lies in the prostate stem cell antigen gene and is in perfect linkage disequilibrium with a variant (rs2294008) that has been reported to be associated with risk of many other cancer types. The A allele is associated with the DNA methylation level of the gene according to the PanCan-meQTL database and with overexpression according to QTLbase. The expression of the gene has been observed to be deregulated in many tumors of the gastrointestinal tract including pancreatic cancer; however, functional studies are needed to elucidate the function relevance of the association.
(© 2024 UICC.)
Databáze: MEDLINE
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