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000186478 1001_ $$aGiaccherini, Matteo$$b0
000186478 245__ $$aAssociation between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk.
000186478 260__ $$aBognor Regis$$bWiley-Liss$$c2023
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000186478 500__ $$a2023 Jul 15;153(2):373-379
000186478 520__ $$aGenes 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.
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000186478 650_7 $$2Other$$aassociation study
000186478 650_7 $$2Other$$agenetic susceptibility
000186478 650_7 $$2Other$$apancreatic ductal adenocarcinoma
000186478 650_7 $$2Other$$asingle nucleotide polymorphisms
000186478 7001_ $$aFarinella, Riccardo$$b1
000186478 7001_ $$aGentiluomo, Manuel$$b2
000186478 7001_ $$aMohelnikova-Duchonova, Beatrice$$b3
000186478 7001_ $$aKauffmann, Emanuele Federico$$b4
000186478 7001_ $$aPalmeri, Matteo$$b5
000186478 7001_ $$aUzunoglu, Faik$$b6
000186478 7001_ $$00000-0002-4294-6799$$aSoucek, Pavel$$b7
000186478 7001_ $$aPetrauskas, Dalius$$b8
000186478 7001_ $$aCavestro, Giulia Martina$$b9
000186478 7001_ $$aZykus, Romanas$$b10
000186478 7001_ $$aCarrara, Silvia$$b11
000186478 7001_ $$aPezzilli, Raffaele$$b12
000186478 7001_ $$aPuzzono, Marta$$b13
000186478 7001_ $$aSzentesi, Andrea$$b14
000186478 7001_ $$aNeoptolemos, John$$b15
000186478 7001_ $$aArchibugi, Livia$$b16
000186478 7001_ $$aPalmieri, Orazio$$b17
000186478 7001_ $$aMilanetto, Anna Caterina$$b18
000186478 7001_ $$aCapurso, Gabriele$$b19
000186478 7001_ $$avan Eijck, Casper H J$$b20
000186478 7001_ $$0P:(DE-He78)104fae0755c89365b7ae32238b3f1f52$$aStocker, Hannah$$b21$$udkfz
000186478 7001_ $$aLawlor, Rita T$$b22
000186478 7001_ $$aVodicka, Pavel$$b23
000186478 7001_ $$aLovecek, Martin$$b24
000186478 7001_ $$aIzbicki, Jakob R$$b25
000186478 7001_ $$aPerri, Francesco$$b26
000186478 7001_ $$aKupcinskaite-Noreikiene, Rita$$b27
000186478 7001_ $$aGötz, Mara$$b28
000186478 7001_ $$aKupcinskas, Juozas$$b29
000186478 7001_ $$aHussein, Tamás$$b30
000186478 7001_ $$aHegyi, Péter$$b31
000186478 7001_ $$aBusch, Olivier R$$b32
000186478 7001_ $$aHackert, Thilo$$b33
000186478 7001_ $$aMambrini, Andrea$$b34
000186478 7001_ $$0P:(DE-He78)90d5535ff896e70eed81f4a4f6f22ae2$$aBrenner, Hermann$$b35$$udkfz
000186478 7001_ $$aLucchesi, Maurizio$$b36
000186478 7001_ $$aBasso, Daniela$$b37
000186478 7001_ $$00000-0002-8831-7349$$aTavano, Francesca$$b38
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000186478 7001_ $$aVanella, Giuseppe$$b40
000186478 7001_ $$aBunduc, Stefania$$b41
000186478 7001_ $$aPetrányi, Ágota$$b42
000186478 7001_ $$aLandi, Stefano$$b43
000186478 7001_ $$aMorelli, Luca$$b44
000186478 7001_ $$0P:(DE-He78)5323704270b6393dcea70186ffd86bca$$aCanzian, Federico$$b45$$udkfz
000186478 7001_ $$00000-0003-3220-9944$$aCampa, Daniele$$b46
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