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Autor
Andriulli, Angelo 1 Aoki, Mateus Nóbrega 1 Archibugi, Livia 1 Arcidiacono, Paolo G 1 Basso, Daniela 1 Boggi, Ugo 1 Brenner, Hermann 1 Bueno-de-Mesquita, Bas 1 Busch, Olivier R 1 Campa, Daniele 1 Canzian, Federico 1 Capurso, Gabriele 1 Carrara, Silvia 1 Cavestro, Giulia M 1 Chammas, Roger 1 Diener, Markus K 1 Ermini, Stefano 1 Gao, Xin 1 Gazouli, Maria 1 Gentiluomo, Manuel 1
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Pracoviště
1st Department of Medicine University... 1 1st Faculty of Medicine Institute of ... 1 1st Propaedeutic University Surgery C... 1 Applied Research on Cancer Net Resear... 1 Biomedical Center Faculty of Medicine... 1 Blood Transfusion Service Children's ... 1 Centre for Surgical Oncology Medias K... 1 Centre for Translational Medicine Dep... 1 Department for Determinants of Chroni... 1 Department of Basic Medical Sciences ... 1 Department of Biology University of P... 1 Department of Digestive Tract Disease... 1 Department of Gastroenterology Instit... 1 Department of General Surgery Univers... 1 Department of General Visceral and Th... 1 Department of General and Pancreatic ... 1 Department of Hematology Transplantat... 1 Department of Internal Medicine San C... 1 Department of Medical Oncology Cancer... 1 Department of Medicine Padua Universi... 1
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Autor
Andriulli, Angelo 1 Aoki, Mateus Nóbrega 1 Archibugi, Livia 1 Arcidiacono, Paolo G 1 Basso, Daniela 1 Boggi, Ugo 1 Brenner, Hermann 1 Bueno-de-Mesquita, Bas 1 Busch, Olivier R 1 Campa, Daniele 1 Canzian, Federico 1 Capurso, Gabriele 1 Carrara, Silvia 1 Cavestro, Giulia M 1 Chammas, Roger 1 Diener, Markus K 1 Ermini, Stefano 1 Gao, Xin 1 Gazouli, Maria 1 Gentiluomo, Manuel 1
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Pracoviště
1st Department of Medicine University... 1 1st Faculty of Medicine Institute of ... 1 1st Propaedeutic University Surgery C... 1 Applied Research on Cancer Net Resear... 1 Biomedical Center Faculty of Medicine... 1 Blood Transfusion Service Children's ... 1 Centre for Surgical Oncology Medias K... 1 Centre for Translational Medicine Dep... 1 Department for Determinants of Chroni... 1 Department of Basic Medical Sciences ... 1 Department of Biology University of P... 1 Department of Digestive Tract Disease... 1 Department of Gastroenterology Instit... 1 Department of General Surgery Univers... 1 Department of General Visceral and Th... 1 Department of General and Pancreatic ... 1 Department of Hematology Transplantat... 1 Department of Internal Medicine San C... 1 Department of Medical Oncology Cancer... 1 Department of Medicine Padua Universi... 1
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Free Medical Journals od 2011
PubMed Central od 2011
Europe PubMed Central od 2011
Open Access Digital Library od 2011-01-01
Open Access Digital Library od 2011-01-01
ROAD: Directory of Open Access Scholarly Resources od 2011
PubMed
34926279
DOI
10.3389/fonc.2021.771312
Knihovny.cz E-zdroje
Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry. Six single nucleotide polymorphisms (SNPs) showed associations with pancreatic cancer risk according to a recessive model of inheritance. We replicated these variants in 3,212 cases and 3,470 controls collected from the PANcreatic Disease ReseArch (PANDoRA) consortium. The results of the meta-analyses confirmed that rs4626538 (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31) showed specific recessive effects (p<10-5) compared with the additive effects (p>10-3), although none of the six SNPs reached the conventional threshold for genome-wide significance (p < 5×10-8). Additional bioinformatic analysis explored the functional annotations of the SNPs and indicated a possible relationship between rs36018702 and expression of the BCL2L11 and BUB1 genes, which are known to be involved in pancreatic biology. Our findings, while not conclusive, indicate the importance of considering non-additive genetic models when performing GWAS analysis. The SNPs associated with pancreatic cancer in this study could be used for further meta-analysis for recessive association of SNPs and pancreatic cancer risk and might be a useful addiction to improve the performance of polygenic risk scores.
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Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.