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@ARTICLE{nal:287622,
      author       = {P. Ünal$^*$ and Y. Lu and B. Bueno-de-Mesquita and C. H.
                      J. van Eijck and R. Talar-Wojnarowska and A. Szentesi and M.
                      Gazouli and E. Kreivenaite and F. Tavano and E.
                      Małecka-Wojciesko and B. Erőss and M. Oliverius and S.
                      Bunduc and M. Nóbrega Aoki and L. Vodickova and U. Boggi
                      and M. Giaccherini and J. Kondrackiene and R. Chammas and O.
                      Palmieri and G. E. Theodoropoulos and M. F. Bijlsma and D.
                      Basso and B. Mohelnikova-Duchonova and P. Soucek and J. R.
                      Izbicki and V. Kiudelis and G. Vanella and P. G. Arcidiacono
                      and B. Włodarczyk and T. Hackert and B. Schöttker$^*$ and
                      F. G. Uzunoglu and F. Bambi and M. Goetz and V. Hlavac and
                      H. Brenner$^*$ and F. Perri and S. Carrara and S. Landi and
                      P. Hegyi and F. Dijk and E. Maiello and G. Capretti and S.
                      G. G. Testoni and M. C. Petrone and H. Stocker$^*$ and S.
                      Ermini and L. Archibugi and M. Gentiluomo and G. M. Cavestro
                      and R. Pezzilli and G. Di Franco and A. C. Milanetto and C.
                      Sperti and J. P. Neoptolemos and L. Morelli and K. Vokacova
                      and C. Pasquali and R. T. Lawlor and F. Bazzocchi and J.
                      Kupcinskas and G. Capurso and D. Campa and F. Canzian$^*$},
      title        = {{P}olymorphisms in transcription factor binding sites and
                      enhancer regions and pancreatic ductal adenocarcinoma risk.},
      journal      = {Human genomics},
      volume       = {18},
      number       = {1},
      issn         = {1473-9542},
      address      = {London [u.a.]},
      publisher    = {Henry Stewart Publ.},
      reportid     = {DKFZ-2024-00276},
      pages        = {12},
      year         = {2024},
      note         = {#EA:C055#LA:C055#},
      abstract     = {Genome-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.},
      keywords     = {Association study (Other) / Enhancer (Other) / Pancreatic
                      cancer (Other) / Single nucleotide polymorphism (Other) /
                      Transcription factor binding site (Other)},
      cin          = {C055 / C070 / C120 / HD01},
      ddc          = {570},
      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:38308339},
      doi          = {10.1186/s40246-024-00576-x},
      url          = {https://inrepo02.dkfz.de/record/287622},
}