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@ARTICLE{Piccardi:278412,
author = {M. Piccardi and M. Gentiluomo and S. Bertoncini and R.
Pezzilli and B. Erőss and S. Bunduc and F. G. Uzunoglu and
R. Talar-Wojnarowska and T. Vanagas and C. Sperti and M.
Oliverius and M. N. Aoki and S. Ermini and T. Hussein and U.
Boggi and K. Jamroziak and E. Maiello and L. Morelli and L.
Vodickova and G. Di Franco and S. Landi and A. Szentesi and
M. Lovecek and M. Puzzono and F. Tavano and H. W. M. van
Laarhoven and A. Zerbi and B. Mohelnikova-Duchonova and H.
Stocker$^*$ and E. Costello and G. Capurso and L. Ginocchi
and R. T. Lawlor and G. Vanella and F. Bazzocchi and J. R.
Izbicki and A. Latiano and B. Bueno-de-Mesquita and R. Ponz
de Leon Pisani and B. Schöttker$^*$ and P. Soucek and P.
Hegyi and M. Gazouli and T. Hackert and J. Kupcinskas and L.
Poskiene and M. Tacelli and S. Roth and S. Carrara and F.
Perri and V. Hlavac and G. E. Theodoropoulos and O. R. Busch
and A. Mambrini and C. H. J. van Eijck and P. Arcidiacono
and A. Scarpa and C. Pasquali and D. Basso and M. Lucchesi
and A. C. Milanetto and J. P. Neoptolemos and G. M. Cavestro
and D. Janciauskas and X. Chen$^*$ and R. Chammas and M.
Goetz and H. Brenner$^*$ and L. Archibugi and M. Dannemann
and F. Canzian and S. Tofanelli and D. Campa},
title = {{E}xploring the {N}eandertal legacy of pancreatic ductal
adenocarcinoma risk in {E}urasians.},
journal = {Biological research},
volume = {56},
number = {1},
issn = {0716-9760},
address = {Santiago},
reportid = {DKFZ-2023-01646},
pages = {46},
year = {2023},
abstract = {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.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.Our results show only a
minimal contribution of Neandertal SNPs to PDAC risk.},
keywords = {Admixture (Other) / Association study (Other) / Eurasians
(Other) / Introgression (Other) / Neandertal (Other) /
Pancreatic cancer (Other)},
cin = {C070 / C120 / HD01},
ddc = {570},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
I:(DE-He78)HD01-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:37574541},
doi = {10.1186/s40659-023-00457-y},
url = {https://inrepo02.dkfz.de/record/278412},
}