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000169706 0247_ $$2doi$$a10.1093/carcin/bgab057
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000169706 041__ $$aEnglish
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000169706 1001_ $$aPistoni, Laura$$b0
000169706 245__ $$aAssociations between pancreatic expression quantitative traits and risk of pancreatic ductal adenocarcinoma.
000169706 260__ $$aOxford$$bOxford Univ. Press$$c2021
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000169706 500__ $$a Volume 42, Issue 8, August 2021, Pages 1037–1045
000169706 520__ $$aPancreatic ductal adenocarcinoma (PDAC) is among the most lethal cancers. Its poor prognosis is predominantly due to the fact that most patients remain asymptomatic until the disease reaches an advanced stage, alongside the lack of early markers and screening strategies. A better understanding of PDAC risk factors is essential for the identification of groups at high risk in the population. Genome-wide association studies (GWAS) have been a powerful tool for detecting genetic variants associated with complex traits, including pancreatic cancer. By exploiting functional and GWAS data, we investigated the associations between polymorphisms affecting gene function in the pancreas (expression quantitative trait loci, eQTLs) and PDAC risk. In a two-phase approach, we analysed 13 713 PDAC cases and 43 784 controls and identified a genome-wide significant association between the A allele of the rs2035875 polymorphism and increased PDAC risk (P=7.14×10 -10). This allele is known to be associated with increased expression in the pancreas of the keratin genes KRT8 and KRT18, whose increased levels have been reported to correlate with various tumor cell characteristics. Additionally, the A allele of the rs789744 variant was associated with decreased risk of developing PDAC (P=3.56×10 -6). This SNP is situated in the SRGAP1 gene and the A allele is associated with higher expression of the gene, which in turn inactivates the cyclin-dependent protein 42 (CDC42) gene expression, thus decreasing the risk of PDAC. In conclusion, we present here a functional-based novel PDAC risk locus and an additional strong candidate supported by significant associations and plausible biological mechanisms.
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000169706 650_7 $$2Other$$aassociation study
000169706 650_7 $$2Other$$aeQTLs
000169706 650_7 $$2Other$$apancreatic cancer
000169706 650_7 $$2Other$$asingle nucleotide polymorphisms
000169706 7001_ $$aGentiluomo, Manuel$$b1
000169706 7001_ $$0P:(DE-He78)ebb819874e9553d89bd480e6811dc0f3$$aLu, Ye$$b2$$udkfz
000169706 7001_ $$aLópez de Maturana, Evangelina$$b3
000169706 7001_ $$aHlavac, Viktor$$b4
000169706 7001_ $$aVanella, Giuseppe$$b5
000169706 7001_ $$aDarvasi, Erika$$b6
000169706 7001_ $$aMilanetto, Anna Caterina$$b7
000169706 7001_ $$aOliverius, Martin$$b8
000169706 7001_ $$aVashist, Yogesh$$b9
000169706 7001_ $$aDi Leo, Milena$$b10
000169706 7001_ $$aMohelnikova-Duchonova, Beatrice$$b11
000169706 7001_ $$aTalar-Wojnarowska, Renata$$b12
000169706 7001_ $$aGheorghe, Cristian$$b13
000169706 7001_ $$aPetrone, Maria Chiara$$b14
000169706 7001_ $$aStrobel, Oliver$$b15
000169706 7001_ $$aArcidiacono, Paolo Giorgio$$b16
000169706 7001_ $$aVodickova, Ludmila$$b17
000169706 7001_ $$aSzentesi, Andrea$$b18
000169706 7001_ $$aCapurso, Gabriele$$b19
000169706 7001_ $$aGajdán, László$$b20
000169706 7001_ $$aMalleo, Giuseppe$$b21
000169706 7001_ $$aTheodoropoulos, George E$$b22
000169706 7001_ $$aBasso, Daniela$$b23
000169706 7001_ $$aSoucek, Pavel$$b24
000169706 7001_ $$0P:(DE-He78)90d5535ff896e70eed81f4a4f6f22ae2$$aBrenner, Hermann$$b25$$udkfz
000169706 7001_ $$aLawlor, Rita T$$b26
000169706 7001_ $$aMorelli, Luca$$b27
000169706 7001_ $$aIvanauskas, Audrius$$b28
000169706 7001_ $$ainvestigators, PanGenEU Study$$b29$$eCollaboration Author
000169706 7001_ $$aKauffmann, Emanuele Federico$$b30
000169706 7001_ $$0P:(DE-He78)b791a47b92809f7c54501331f72e0243$$aMacauda, Angelica$$b31$$udkfz
000169706 7001_ $$00000-0002-3295-6811$$aGazouli, Maria$$b32
000169706 7001_ $$aArchibugi, Livia$$b33
000169706 7001_ $$aNentwich, Michael$$b34
000169706 7001_ $$aLoveček, Martin$$b35
000169706 7001_ $$aCavestro, Giulia Martina$$b36
000169706 7001_ $$aVodicka, Pavel$$b37
000169706 7001_ $$aLandi, Stefano$$b38
000169706 7001_ $$aTavano, Francesca$$b39
000169706 7001_ $$aSperti, Cosimo$$b40
000169706 7001_ $$00000-0002-7012-1196$$aHackert, Thilo$$b41
000169706 7001_ $$aKupcinskas, Juozas$$b42
000169706 7001_ $$aPezzilli, Raffaele$$b43
000169706 7001_ $$aAndriulli, Angelo$$b44
000169706 7001_ $$aPollina, Luca$$b45
000169706 7001_ $$aKreivenaite, Edita$$b46
000169706 7001_ $$aGioffreda, Domenica$$b47
000169706 7001_ $$aJamroziak, Krzysztof$$b48
000169706 7001_ $$aHegyi, Péter$$b49
000169706 7001_ $$aIzbicki, Jakob R$$b50
000169706 7001_ $$aTestoni, Sabrina Gloria Giulia$$b51
000169706 7001_ $$aZuppardo, Raffaella Alessia$$b52
000169706 7001_ $$aBozzato, Dania$$b53
000169706 7001_ $$aNeoptolemos, John P$$b54
000169706 7001_ $$aMalats, Núria$$b55
000169706 7001_ $$0P:(DE-He78)5323704270b6393dcea70186ffd86bca$$aCanzian, Federico$$b56$$udkfz
000169706 7001_ $$aCampa, Daniele$$b57
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