Počet záznamů: 1
Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk
- 1.0580704 - ÚEM 2024 RIV US eng J - Článek v odborném periodiku
Giaccherini, M. - Farinella, R. - Gentiluomo, M. - Mohelníková-Duchoňová, B. - Kauffmann, E.F. - Uzunoglu, F. - Souček, P. - Petrauskas, D. - Cavestro, G.M. - Zykus, R. - Carrara, S. - Pezzilli, R. - Puzzono, M. - Szentesi, A. - Neoptolemos, J. - Archibugi, L. - Palmieri, O. - Milanetto, A.C. - Capurso, G. - van Eijck, C.H.J. - Stöcker, H. - Lawlor, R. - Vodička, Pavel - Loveček, M. - Izbicki, J.R. … celkem 47 autorů
Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk.
International Journal of Cancer. Roč. 153, č. 2 (2023), s. 373-379. ISSN 0020-7136. E-ISSN 1097-0215
Grant CEP: GA MZd(CZ) NU21-07-00247
Institucionální podpora: RVO:68378041
Klíčová slova: association study * genetic susceptibility * pancreatic ductal * adenocarcinoma * single nucleotide polymorphisms
Obor OECD: Human genetics
Impakt faktor: 6.4, rok: 2022
Způsob publikování: Open access
https://onlinelibrary.wiley.com/doi/10.1002/ijc.34383
Genes carrying high-penetrance germline mutations may also be associated with cancer susceptibility through common low-penetrance genetic variants. To increase the knowledge on genetic pancreatic ductal adenocarcinoma (PDAC) aetiology, the common genetic variability of PDAC familial genes was analysed in our study. We conducted a multiphase study analysing 7745 single nucleotide polymorphisms (SNPs) from 29 genes reported to harbour a high-penetrance PDAC-associated mutation in at least one published study. To assess the effect of the SNPs on PDAC risk, a total of 14 666 PDAC cases and 221 897 controls across five different studies were analysed. The T allele of the rs1412832 polymorphism, that is situated in the CDKN2B-AS1/ANRIL, showed a genome-wide significant association with increased risk of developing PDAC (OR = 1.11, 95% CI = 1.07-1.15, P = 5.25 x 10(-9)). CDKN2B-AS1/ANRIL is a long noncoding RNA, situated in 9p21.3, and regulates many target genes, among which CDKN2A (p16) that frequently shows deleterious somatic and germline mutations and deregulation in PDAC. Our results strongly support the role of the genetic variability of the 9p21.3 region in PDAC aetiopathogenesis and highlight the importance of secondary analysis as a tool for discovering new risk loci in complex human diseases.
Trvalý link: https://hdl.handle.net/11104/0350929
Počet záznamů: 1