Buchumschlag

Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians

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 associa...

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Hauptverfasser: Piccardi, Margherita (VerfasserIn) , Gentiluomo, Manuel (VerfasserIn) , Bertoncini, Stefania (VerfasserIn) , Pezzilli, Raffaele (VerfasserIn) , Erőss, Bálint (VerfasserIn) , Bunduc, Stefania (VerfasserIn) , Uzunoglu, Faik G. (VerfasserIn) , Talar-Wojnarowska, Renata (VerfasserIn) , Vanagas, Tomas (VerfasserIn) , Sperti, Cosimo (VerfasserIn) , Oliverius, Martin (VerfasserIn) , Aoki, Mateus Nóbrega (VerfasserIn) , Ermini, Stefano (VerfasserIn) , Hussein, Tamás (VerfasserIn) , Boggi, Ugo (VerfasserIn) , Jamroziak, Krzysztof (VerfasserIn) , Maiello, Evaristo (VerfasserIn) , Morelli, Luca (VerfasserIn) , Vodickova, Ludmila (VerfasserIn) , Di Franco, Gregorio (VerfasserIn) , Landi, Stefano (VerfasserIn) , Szentesi, Andrea (VerfasserIn) , Lovecek, Martin (VerfasserIn) , Puzzono, Marta (VerfasserIn) , Tavano, Francesca (VerfasserIn) , van Laarhoven, Hanneke W. M. (VerfasserIn) , Zerbi, Alessandro (VerfasserIn) , Mohelnikova-Duchonova, Beatrice (VerfasserIn) , Stocker, Hannah (VerfasserIn) , Costello, Eithne (VerfasserIn) , Capurso, Gabriele (VerfasserIn) , Ginocchi, Laura (VerfasserIn) , Lawlor, Rita T. (VerfasserIn) , Vanella, Giuseppe (VerfasserIn) , Bazzocchi, Francesca (VerfasserIn) , Izbicki, Jakob R. (VerfasserIn) , Latiano, Anna (VerfasserIn) , Bueno-de-Mesquita, Bas (VerfasserIn) , Ponz de Leon Pisani, Ruggero (VerfasserIn) , Schöttker, Ben (VerfasserIn) , Soucek, Pavel (VerfasserIn) , Hegyi, Péter (VerfasserIn) , Gazouli, Maria (VerfasserIn) , Hackert, Thilo (VerfasserIn) , Kupcinskas, Juozas (VerfasserIn) , Poskiene, Lina (VerfasserIn) , Tacelli, Matteo (VerfasserIn) , Roth, Susanne (VerfasserIn) , Carrara, Silvia (VerfasserIn) , Perri, Francesco (VerfasserIn) , Hlavac, Viktor (VerfasserIn) , Theodoropoulos, George E. (VerfasserIn) , Busch, Olivier R. (VerfasserIn) , Mambrini, Andrea (VerfasserIn) , van Eijck, Casper H. J. (VerfasserIn) , Arcidiacono, Paolo (VerfasserIn) , Scarpa, Aldo (VerfasserIn) , Pasquali, Claudio (VerfasserIn) , Basso, Daniela (VerfasserIn) , Lucchesi, Maurizio (VerfasserIn) , Milanetto, Anna Caterina (VerfasserIn) , Neoptolemos, John P. (VerfasserIn) , Cavestro, Giulia Martina (VerfasserIn) , Janciauskas, Dainius (VerfasserIn) , Chen, Xuechen (VerfasserIn) , Chammas, Roger (VerfasserIn) , Goetz, Mara (VerfasserIn) , Brenner, Hermann (VerfasserIn) , Archibugi, Livia (VerfasserIn) , Dannemann, Michael (VerfasserIn) , Canzian, Federico (VerfasserIn) , Tofanelli, Sergio (VerfasserIn) , Campa, Daniele (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 13 Aug 2023
In: Biological research
Year: 2023, Jahrgang: 56, Heft: 1, Pages: 1-9
ISSN:0717-6287
DOI:10.1186/s40659-023-00457-y
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s40659-023-00457-y
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Verfasserangaben:Margherita Piccardi, Manuel Gentiluomo, Stefania Bertoncini, Raffaele Pezzilli, Bálint Erőss, Stefania Bunduc, Faik G. Uzunoglu, Renata Talar-Wojnarowska, Tomas Vanagas, Cosimo Sperti, Martin Oliverius, Mateus Nóbrega Aoki, Stefano Ermini, Tamás Hussein, Ugo Boggi, Krzysztof Jamroziak, Evaristo Maiello, Luca Morelli, Ludmila Vodickova, Gregorio Di Franco, Stefano Landi, Andrea Szentesi, Martin Lovecek, Marta Puzzono, Francesca Tavano, Hanneke W. M. van Laarhoven, Alessandro Zerbi, Beatrice Mohelnikova-Duchonova, Hannah Stocker, Eithne Costello, Gabriele Capurso, Laura Ginocchi, Rita T. Lawlor, Giuseppe Vanella, Francesca Bazzocchi, Jakob R. Izbicki, Anna Latiano, Bas Bueno-de-Mesquita, Ruggero Ponz de Leon Pisani, Ben Schöttker, Pavel Soucek, Péter Hegyi, Maria Gazouli, Thilo Hackert, Juozas Kupcinskas, Lina Poskiene, Matteo Tacelli, Susanne Roth, Silvia Carrara, Francesco Perri, Viktor Hlavac, George E. Theodoropoulos, Olivier R. Busch, Andrea Mambrini, Casper H.J. van Eijck, Paolo Arcidiacono, Aldo Scarpa, Claudio Pasquali, Daniela Basso, Maurizio Lucchesi, Anna Caterina Milanetto, John P. Neoptolemos, Giulia Martina Cavestro, Dainius Janciauskas, Xuechen Chen, Roger Chammas, Mara Goetz, Hermann Brenner, Livia Archibugi, Michael Dannemann, Federico Canzian, Sergio Tofanelli and Daniele Campa

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245 1 0 |a Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians  |c Margherita Piccardi, Manuel Gentiluomo, Stefania Bertoncini, Raffaele Pezzilli, Bálint Erőss, Stefania Bunduc, Faik G. Uzunoglu, Renata Talar-Wojnarowska, Tomas Vanagas, Cosimo Sperti, Martin Oliverius, Mateus Nóbrega Aoki, Stefano Ermini, Tamás Hussein, Ugo Boggi, Krzysztof Jamroziak, Evaristo Maiello, Luca Morelli, Ludmila Vodickova, Gregorio Di Franco, Stefano Landi, Andrea Szentesi, Martin Lovecek, Marta Puzzono, Francesca Tavano, Hanneke W. M. van Laarhoven, Alessandro Zerbi, Beatrice Mohelnikova-Duchonova, Hannah Stocker, Eithne Costello, Gabriele Capurso, Laura Ginocchi, Rita T. Lawlor, Giuseppe Vanella, Francesca Bazzocchi, Jakob R. Izbicki, Anna Latiano, Bas Bueno-de-Mesquita, Ruggero Ponz de Leon Pisani, Ben Schöttker, Pavel Soucek, Péter Hegyi, Maria Gazouli, Thilo Hackert, Juozas Kupcinskas, Lina Poskiene, Matteo Tacelli, Susanne Roth, Silvia Carrara, Francesco Perri, Viktor Hlavac, George E. Theodoropoulos, Olivier R. Busch, Andrea Mambrini, Casper H.J. van Eijck, Paolo Arcidiacono, Aldo Scarpa, Claudio Pasquali, Daniela Basso, Maurizio Lucchesi, Anna Caterina Milanetto, John P. Neoptolemos, Giulia Martina Cavestro, Dainius Janciauskas, Xuechen Chen, Roger Chammas, Mara Goetz, Hermann Brenner, Livia Archibugi, Michael Dannemann, Federico Canzian, Sergio Tofanelli and Daniele Campa 
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520 |a 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. 
650 4 |a Admixture 
650 4 |a Animals 
650 4 |a Association study 
650 4 |a Carcinoma, pancreatic ductal 
650 4 |a Diabetes mellitus, type 2 
650 4 |a Eurasians 
650 4 |a Humans 
650 4 |a Introgression 
650 4 |a Neandertal 
650 4 |a Neanderthals 
650 4 |a Pancreatic cancer 
650 4 |a Pancreatic neoplasms 
650 4 |a Polymorphism, single nucleotide 
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700 1 |a Bertoncini, Stefania  |e VerfasserIn  |4 aut 
700 1 |a Pezzilli, Raffaele  |e VerfasserIn  |4 aut 
700 1 |a Erőss, Bálint  |e VerfasserIn  |4 aut 
700 1 |a Bunduc, Stefania  |e VerfasserIn  |4 aut 
700 1 |a Uzunoglu, Faik G.  |e VerfasserIn  |4 aut 
700 1 |a Talar-Wojnarowska, Renata  |e VerfasserIn  |4 aut 
700 1 |a Vanagas, Tomas  |e VerfasserIn  |4 aut 
700 1 |a Sperti, Cosimo  |e VerfasserIn  |4 aut 
700 1 |a Oliverius, Martin  |e VerfasserIn  |4 aut 
700 1 |a Aoki, Mateus Nóbrega  |e VerfasserIn  |4 aut 
700 1 |a Ermini, Stefano  |e VerfasserIn  |4 aut 
700 1 |a Hussein, Tamás  |e VerfasserIn  |4 aut 
700 1 |a Boggi, Ugo  |e VerfasserIn  |4 aut 
700 1 |a Jamroziak, Krzysztof  |e VerfasserIn  |4 aut 
700 1 |a Maiello, Evaristo  |e VerfasserIn  |4 aut 
700 1 |a Morelli, Luca  |e VerfasserIn  |4 aut 
700 1 |a Vodickova, Ludmila  |e VerfasserIn  |4 aut 
700 1 |a Di Franco, Gregorio  |e VerfasserIn  |4 aut 
700 1 |a Landi, Stefano  |e VerfasserIn  |4 aut 
700 1 |a Szentesi, Andrea  |e VerfasserIn  |4 aut 
700 1 |a Lovecek, Martin  |e VerfasserIn  |4 aut 
700 1 |a Puzzono, Marta  |e VerfasserIn  |4 aut 
700 1 |a Tavano, Francesca  |e VerfasserIn  |4 aut 
700 1 |a van Laarhoven, Hanneke W. M.  |e VerfasserIn  |4 aut 
700 1 |a Zerbi, Alessandro  |e VerfasserIn  |4 aut 
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700 1 |a Capurso, Gabriele  |e VerfasserIn  |4 aut 
700 1 |a Ginocchi, Laura  |e VerfasserIn  |4 aut 
700 1 |a Lawlor, Rita T.  |e VerfasserIn  |4 aut 
700 1 |a Vanella, Giuseppe  |e VerfasserIn  |4 aut 
700 1 |a Bazzocchi, Francesca  |e VerfasserIn  |4 aut 
700 1 |a Izbicki, Jakob R.  |e VerfasserIn  |4 aut 
700 1 |a Latiano, Anna  |e VerfasserIn  |4 aut 
700 1 |a Bueno-de-Mesquita, Bas  |e VerfasserIn  |4 aut 
700 1 |a Ponz de Leon Pisani, Ruggero  |e VerfasserIn  |4 aut 
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700 1 |a Hlavac, Viktor  |e VerfasserIn  |4 aut 
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700 1 |a Tofanelli, Sergio  |e VerfasserIn  |4 aut 
700 1 |a Campa, Daniele  |e VerfasserIn  |4 aut 
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