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

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Piccardi, Margherita, Gentiluomo, Manuel ORCID: 0000-0002-0366-9653, Bertoncini, Stefania, Pezzilli, Raffaele, Erőss, Bálint ORCID: 0000-0003-3658-8427, Bunduc, Stefania, Uzunoglu, Faik G, Talar-Wojnarowska, Renata, Vanagas, Tomas, Sperti, Cosimo et al (show 63 more authors) , Oliverius, Martin, Aoki, Mateus Nóbrega, Ermini, Stefano, Hussein, Tamás, Boggi, Ugo, Jamroziak, Krzysztof, Maiello, Evaristo, Morelli, Luca, Vodickova, Ludmila, Di Franco, Gregorio ORCID: 0000-0003-2156-369X, Landi, Stefano, Szentesi, Andrea, Lovecek, Martin, Puzzono, Marta, Tavano, Francesca, van Laarhoven, Hanneke WM, Zerbi, Alessandro, Mohelnikova-Duchonova, Beatrice, Stocker, Hannah ORCID: 0000-0001-5281-2455, Costello, Eithne, Capurso, Gabriele, Ginocchi, Laura, Lawlor, Rita T, Vanella, Giuseppe, Bazzocchi, Francesca, Izbicki, Jakob R, Latiano, Anna, Bueno-de-Mesquita, Bas, Ponz de Leon Pisani, Ruggero, Schöttker, Ben, Soucek, Pavel, Hegyi, Péter, Gazouli, Maria, Hackert, Thilo, Kupcinskas, Juozas, Poskiene, Lina, Tacelli, Matteo, Roth, Susanne, Carrara, Silvia, Perri, Francesco, Hlavac, Viktor, Theodoropoulos, George E, Busch, Olivier R, Mambrini, Andrea, van Eijck, Casper HJ, Arcidiacono, Paolo ORCID: 0000-0001-6692-7720, Scarpa, Aldo, Pasquali, Claudio, Basso, Daniela, Lucchesi, Maurizio, Milanetto, Anna Caterina, Neoptolemos, John P, Cavestro, Giulia Martina, Janciauskas, Dainius, Chen, Xuechen, Chammas, Roger, Goetz, Mara ORCID: 0000-0003-4368-2016, Brenner, Hermann ORCID: 0000-0002-6129-1572, Archibugi, Livia, Dannemann, Michael, Canzian, Federico, Tofanelli, Sergio and Campa, Daniele (2023) Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians. Biological research, 56 (1). 46-.

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Abstract

<h4>Background</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>Our results show only a minimal contribution of Neandertal SNPs to PDAC risk.

Item Type:	Article
Uncontrolled Keywords:	Animals, Humans, Carcinoma, Pancreatic Ductal, Pancreatic Neoplasms, Diabetes Mellitus, Type 2, Polymorphism, Single Nucleotide, Neanderthals
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Systems, Molecular and Integrative Biology
Depositing User:	Symplectic Admin
Date Deposited:	15 Mar 2024 17:07
Last Modified:	15 Mar 2024 21:40
DOI:	10.1186/s40659-023-00457-y
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3179486