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Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk
M. Giaccherini, R. Farinella, M. Gentiluomo, B. Mohelnikova-Duchonova, EF. Kauffmann, M. Palmeri, F. Uzunoglu, P. Soucek, D. Petrauskas, GM. Cavestro, R. Zykus, S. Carrara, R. Pezzilli, M. Puzzono, A. Szentesi, J. Neoptolemos, L. Archibugi, O....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
36451333
DOI
10.1002/ijc.34383
Knihovny.cz E-zdroje
- MeSH
- duktální karcinom slinivky břišní * genetika MeSH
- genetická predispozice k nemoci MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- nádory slinivky břišní * genetika MeSH
- RNA dlouhá nekódující * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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 × 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.
ARC NET Centre for Applied Research on Cancer University and Hospital Trust of Verona Verona Italy
Biomedical Center Faculty of Medicine in Pilsen Charles University Pilsen Czech Republic
Carol Davila University of Medicine and Pharmacy Bucharest Romania
Center for Translational Medicine Semmelweis University Budapest Hungary
Centre for Translational Medicine Department of Medicine University of Szeged Szeged Hungary
Department of Biology University of Pisa Pisa Italy
Department of Gastroenterology Lithuanian University of Health Sciences Kaunas Lithuania
Department of General Surgery University of Heidelberg Heidelberg Germany
Department of Internal Medicine and Oncology Semmelweis University Budapest Hungary
Department of Medicine University of Padova Padova Italy
Department of Surgery 1 University Hospital Olomouc Olomouc Czech Republic
Department of Surgery Erasmus MC University Medical Center Rotterdam The Netherlands
Department of Surgery Oncology and Gastroenterology University of Padova Padova Italy
Digestive and Liver Disease Unit Sant' Andrea Hospital Rome Italy
Division of General and Transplant Surgery Pisa University Hospital Pisa Italy
Division of Pancreatic Diseases Heart and Vascular Center Semmelweis University Budapest Hungary
Endoscopic Unit Department of Gastroenterology IRCCS Humanitas Research Hospital Milan Italy
Genomic Epidemiology Group German Cancer Research Center Heidelberg Germany
Institute for Translational Medicine Medical School University of Pécs Pécs Hungary
János Szentágothai Research Center University of Pécs Pécs Hungary
Oncological Department Massa Carrara Azienda USL Toscana Nord Ovest Carrara Italy
Citace poskytuje Crossref.org
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