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@ARTICLE{Pistoni:169706,
      author       = {L. Pistoni and M. Gentiluomo and Y. Lu$^*$ and E. López de
                      Maturana and V. Hlavac and G. Vanella and E. Darvasi and A.
                      C. Milanetto and M. Oliverius and Y. Vashist and M. Di Leo
                      and B. Mohelnikova-Duchonova and R. Talar-Wojnarowska and C.
                      Gheorghe and M. C. Petrone and O. Strobel and P. G.
                      Arcidiacono and L. Vodickova and A. Szentesi and G. Capurso
                      and L. Gajdán and G. Malleo and G. E. Theodoropoulos and D.
                      Basso and P. Soucek and H. Brenner$^*$ and R. T. Lawlor and
                      L. Morelli and A. Ivanauskas and E. F. Kauffmann and A.
                      Macauda$^*$ and M. Gazouli and L. Archibugi and M. Nentwich
                      and M. Loveček and G. M. Cavestro and P. Vodicka and S.
                      Landi and F. Tavano and C. Sperti and T. Hackert and J.
                      Kupcinskas and R. Pezzilli and A. Andriulli and L. Pollina
                      and E. Kreivenaite and D. Gioffreda and K. Jamroziak and P.
                      Hegyi and J. R. Izbicki and S. G. G. Testoni and R. A.
                      Zuppardo and D. Bozzato and J. P. Neoptolemos and N. Malats
                      and F. Canzian$^*$ and D. Campa},
      collaboration = {P. S. investigators},
      title        = {{A}ssociations between pancreatic expression quantitative
                      traits and risk of pancreatic ductal adenocarcinoma.},
      journal      = {Carcinogenesis},
      volume       = {42},
      number       = {8},
      issn         = {1460-2180},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2021-01513},
      pages        = {1037–1045},
      year         = {2021},
      note         = {Volume 42, Issue 8, August 2021, Pages 1037–1045},
      abstract     = {Pancreatic 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.},
      keywords     = {association study (Other) / eQTLs (Other) / pancreatic
                      cancer (Other) / single nucleotide polymorphisms (Other)},
      cin          = {C055 / C070 / C120 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)C055-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34216462},
      doi          = {10.1093/carcin/bgab057},
      url          = {https://inrepo02.dkfz.de/record/169706},
}