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  5. Potential association between <scp> <i>PSCA</i> rs2976395 </scp> functional variant and pancreatic cancer risk

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Article
en
2024

Potential association between <scp> <i>PSCA</i> rs2976395 </scp> functional variant and pancreatic cancer risk

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en
2024
Vol 155 (8)
Vol. 155
DOI: 10.1002/ijc.35046

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Hermann Brenner
Hermann Brenner

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Chiara Corradi
Giulia Lencioni
Alessio Felici
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Abstract

Correlated regions of systemic interindividual variation (CoRSIV) represent a small proportion of the human genome showing DNA methylation patterns that are the same in all human tissues, are different among individuals, and are partially regulated by genetic variants in cis. In this study we aimed at investigating single-nucleotide polymorphisms (SNPs) within CoRSIVs and their involvement with pancreatic ductal adenocarcinoma (PDAC) risk. We analyzed 29,099 CoRSIV-SNPs and 133,615 CoRSIV-mQTLs in 14,394 cases and 247,022 controls of European and Asian descent. We observed that the A allele of the rs2976395 SNP was associated with increased PDAC risk in Europeans (p = 2.81 × 10-5). This SNP lies in the prostate stem cell antigen gene and is in perfect linkage disequilibrium with a variant (rs2294008) that has been reported to be associated with risk of many other cancer types. The A allele is associated with the DNA methylation level of the gene according to the PanCan-meQTL database and with overexpression according to QTLbase. The expression of the gene has been observed to be deregulated in many tumors of the gastrointestinal tract including pancreatic cancer; however, functional studies are needed to elucidate the function relevance of the association.

How to cite this publication

Chiara Corradi, Giulia Lencioni, Alessio Felici, Cosmeri Rizzato, Manuel Gentiluomo, Stefano Ermini, Lívia Archibugi, Antanas Mickevičius, M Lucchesi, Ewa Malecka‐Wojciesko, Daniela Basso, Paolo Giorgio Arcidiacono, Maria Chiara Petrone, Silvia Carrara, M Götz, Stefania Bunduc, Bernd Holleczek, Mateus Nóbrega Aoki, Faik G. Uzunoglu, Dalila Lucíola Zanette, Andrea Mambrini, Krzysztof Jamroziak, Martin Oliverius, Martin Loveček, Giulia Martina Cavestro, Anna Caterina Milanetto, Giulia Peduzzi, Beatrice Mohelnikova Duchonova, Jakob R. Izbicki, Rimantas Žalinkevičius, Viktor Hlaváč, Casper H.J. van Eijck, Hermann Brenner, Giuseppe Vanella, Klara Vokacova, Pavel Souček, Francesca Tavano, Francesco Perri, Gabriele Capurso, Tamás Hussein, Mindaugas Kiudelis, Juozas Kupčinskas, Olivier R. Busch, Luca Morelli, George Theodoropoulos, Sabrina Gloria Giulia Testoni, Kęstutis Adamonis, John P. Neoptolemos, Maria Gazouli, Claudio Pasquali, Zita Kormos, Pavel Skalický, Raffaele Pezzilli, Cosimo Sperti, Emanuele F. Kauffmann, Markus W. Büchler, Ben Schöttker, Péter Hegyi, Giovanni Capretti, Rita T. Lawlor, Federico Canzian, Daniele Campa (2024). Potential association between <scp> <i>PSCA</i> rs2976395 </scp> functional variant and pancreatic cancer risk. , 155(8), DOI: https://doi.org/10.1002/ijc.35046.

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Publication Details

Type

Article

Year

2024

Authors

62

Datasets

0

Total Files

0

Language

en

DOI

https://doi.org/10.1002/ijc.35046

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