Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians

0581943 - ÚEM 2024 RIV CL eng J - Journal Article
Piccardi, M. - Gentiluomo, M. - Bertoncini, S. - Pezzilli, R. - Eross, B. - Bunduc, S. - Uzunoglu, F.G. - Talar-Wojnarowska, R. - Vanagas, T. - Sperti, C. - Oliverius, M. - Aoki, M.N. - Ermini, S. - Hussein, T. - Boggi, U. - Jamroziak, K. - Maiello, E. - Morelli, L. - Vodičková, Ludmila - Di Franco, G. - Landi, S. - Szentesi, A. - Loveček, M. - Puzzono, M. - Tavano, F. … Total 73 authors
Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians.
Biological Research. Roč. 56, č. 1 (2023), č. článku 46. ISSN 0716-9760. E-ISSN 0717-6287
R&D Projects: GA MZd(CZ) NU21-07-00247
Institutional support: RVO:68378041
Keywords : neandertal * pancreatic cancer * association study * introgression * eurasians * admixture
OECD category: Human genetics
Impact factor: 6.7, year: 2022
Method of publishing: Open access
https://biolres.biomedcentral.com/articles/10.1186/s40659-023-00457-y

BackgroundThe 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.ResultsThe 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 x 10(-6)), with a P-value close to a threshold that takes into account multiple testing.ConclusionsOur results show only a minimal contribution of Neandertal SNPs to PDAC risk.
Permanent Link: https://hdl.handle.net/11104/0350979