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000287622 245__ $$aPolymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk.
000287622 260__ $$aLondon [u.a.]$$bHenry Stewart Publ.$$c2024
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000287622 520__ $$aGenome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcinoma (PDAC). However, the strict significance threshold commonly used makes it likely that many true risk loci are missed. Functional annotation of GWAS polymorphisms is a proven strategy to identify additional risk loci. We aimed to investigate single-nucleotide polymorphisms (SNP) in regulatory regions [transcription factor binding sites (TFBSs) and enhancers] that could change the expression profile of multiple genes they act upon and thereby modify PDAC risk. We analyzed a total of 12,636 PDAC cases and 43,443 controls from PanScan/PanC4 and the East Asian GWAS (discovery populations), and the PANDoRA consortium (replication population). We identified four associations that reached study-wide statistical significance in the overall meta-analysis: rs2472632(A) (enhancer variant, OR 1.10, 95%CI 1.06,1.13, p = 5.5 × 10-8), rs17358295(G) (enhancer variant, OR 1.16, 95%CI 1.10,1.22, p = 6.1 × 10-7), rs2232079(T) (TFBS variant, OR 0.88, 95%CI 0.83,0.93, p = 6.4 × 10-6) and rs10025845(A) (TFBS variant, OR 1.88, 95%CI 1.50,1.12, p = 1.32 × 10-5). The SNP with the most significant association, rs2472632, is located in an enhancer predicted to target the coiled-coil domain containing 34 oncogene. Our results provide new insights into genetic risk factors for PDAC by a focused analysis of polymorphisms in regulatory regions and demonstrating the usefulness of functional prioritization to identify loci associated with PDAC risk.
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000287622 650_7 $$2Other$$aAssociation study
000287622 650_7 $$2Other$$aEnhancer
000287622 650_7 $$2Other$$aPancreatic cancer
000287622 650_7 $$2Other$$aSingle nucleotide polymorphism
000287622 650_7 $$2Other$$aTranscription factor binding site
000287622 7001_ $$aLu, Ye$$b1
000287622 7001_ $$aBueno-de-Mesquita, Bas$$b2
000287622 7001_ $$avan Eijck, Casper H J$$b3
000287622 7001_ $$aTalar-Wojnarowska, Renata$$b4
000287622 7001_ $$aSzentesi, Andrea$$b5
000287622 7001_ $$aGazouli, Maria$$b6
000287622 7001_ $$aKreivenaite, Edita$$b7
000287622 7001_ $$aTavano, Francesca$$b8
000287622 7001_ $$aMałecka-Wojciesko, Ewa$$b9
000287622 7001_ $$aErőss, Bálint$$b10
000287622 7001_ $$aOliverius, Martin$$b11
000287622 7001_ $$aBunduc, Stefania$$b12
000287622 7001_ $$aNóbrega Aoki, Mateus$$b13
000287622 7001_ $$aVodickova, Ludmila$$b14
000287622 7001_ $$aBoggi, Ugo$$b15
000287622 7001_ $$aGiaccherini, Matteo$$b16
000287622 7001_ $$aKondrackiene, Jurate$$b17
000287622 7001_ $$aChammas, Roger$$b18
000287622 7001_ $$aPalmieri, Orazio$$b19
000287622 7001_ $$aTheodoropoulos, George E$$b20
000287622 7001_ $$aBijlsma, Maarten F$$b21
000287622 7001_ $$aBasso, Daniela$$b22
000287622 7001_ $$aMohelnikova-Duchonova, Beatrice$$b23
000287622 7001_ $$aSoucek, Pavel$$b24
000287622 7001_ $$aIzbicki, Jakob R$$b25
000287622 7001_ $$aKiudelis, Vytautas$$b26
000287622 7001_ $$aVanella, Giuseppe$$b27
000287622 7001_ $$aArcidiacono, Paolo Giorgio$$b28
000287622 7001_ $$aWłodarczyk, Barbara$$b29
000287622 7001_ $$aHackert, Thilo$$b30
000287622 7001_ $$0P:(DE-He78)c67a12496b8aac150c0eef888d808d46$$aSchöttker, Ben$$b31$$udkfz
000287622 7001_ $$aUzunoglu, Faik G$$b32
000287622 7001_ $$aBambi, Franco$$b33
000287622 7001_ $$aGoetz, Mara$$b34
000287622 7001_ $$aHlavac, Viktor$$b35
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000287622 7001_ $$aPerri, Francesco$$b37
000287622 7001_ $$aCarrara, Silvia$$b38
000287622 7001_ $$aLandi, Stefano$$b39
000287622 7001_ $$aHegyi, Péter$$b40
000287622 7001_ $$aDijk, Frederike$$b41
000287622 7001_ $$aMaiello, Evaristo$$b42
000287622 7001_ $$aCapretti, Giovanni$$b43
000287622 7001_ $$aTestoni, Sabrina Gloria Giulia$$b44
000287622 7001_ $$aPetrone, Maria Chiara$$b45
000287622 7001_ $$0P:(DE-He78)104fae0755c89365b7ae32238b3f1f52$$aStocker, Hannah$$b46$$udkfz
000287622 7001_ $$aErmini, Stefano$$b47
000287622 7001_ $$aArchibugi, Livia$$b48
000287622 7001_ $$aGentiluomo, Manuel$$b49
000287622 7001_ $$aCavestro, Giulia Martina$$b50
000287622 7001_ $$aPezzilli, Raffaele$$b51
000287622 7001_ $$aDi Franco, Gregorio$$b52
000287622 7001_ $$aMilanetto, Anna Caterina$$b53
000287622 7001_ $$aSperti, Cosimo$$b54
000287622 7001_ $$aNeoptolemos, John P$$b55
000287622 7001_ $$aMorelli, Luca$$b56
000287622 7001_ $$aVokacova, Klara$$b57
000287622 7001_ $$aPasquali, Claudio$$b58
000287622 7001_ $$aLawlor, Rita T$$b59
000287622 7001_ $$aBazzocchi, Francesca$$b60
000287622 7001_ $$aKupcinskas, Juozas$$b61
000287622 7001_ $$aCapurso, Gabriele$$b62
000287622 7001_ $$aCampa, Daniele$$b63
000287622 7001_ $$0P:(DE-He78)5323704270b6393dcea70186ffd86bca$$aCanzian, Federico$$b64$$eLast author$$udkfz
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