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@ARTICLE{Corradi:275777,
      author       = {C. Corradi and G. Lencioni and M. Gentiluomo and A. Felici
                      and A. Latiano and G. Kiudelis and C. H. J. van Eijck and K.
                      Marta and R. T. Lawlor and F. Tavano and U. Boggi and F.
                      Dijk and G. M. Cavestro and R. C. H. Vermeulen and T.
                      Hackert and M. C. Petrone and F. G. Uzunoğlu and L.
                      Archibugi and J. R. Izbicki and L. Morelli and A. Zerbi and
                      S. Landi and H. Stocker$^*$ and R. Talar-Wojnarowska and G.
                      Di Franco and P. Hegyi and C. Sperti and S. Carrara and G.
                      Capurso and M. Gazouli and H. Brenner$^*$ and S. Bunduc and
                      O. Busch and F. Perri and M. Oliverius and P. J. Hegyi and
                      M. Goetz and P. Scognamiglio and A. Mambrini and P. G.
                      Arcidiacono and E. Kreivenaite and J. Kupcinskas and T.
                      Hussein and S. Ermini and A. C. Milanetto and P. Vodicka and
                      V. Kiudelis and V. Hlaváč and P. Soucek and G. E.
                      Theodoropoulos and D. Basso and J. P. Neoptolemos and M.
                      Nóbrega Aoki and R. Pezzilli and C. Pasquali and R. Chammas
                      and S. G. G. Testoni and B. Mohelnikova-Duchonova and M.
                      Lucchesi and C. Rizzato and F. Canzian$^*$ and D. Campa},
      title        = {{P}olymorphic variants involved in methylation regulation:
                      a strategy to discover risk loci for pancreatic ductal
                      adenocarcinoma.},
      journal      = {Journal of medical genetics},
      volume       = {60},
      number       = {10},
      issn         = {0022-2593},
      address      = {London},
      publisher    = {BMJ Publishing Group},
      reportid     = {DKFZ-2023-00871},
      pages        = {980-986},
      year         = {2023},
      note         = {2023 Oct;60(10):980-986},
      abstract     = {Only a small number of risk factors for pancreatic ductal
                      adenocarcinoma (PDAC) has been established. Several studies
                      identified a role of epigenetics and of deregulation of DNA
                      methylation. DNA methylation is variable across a lifetime
                      and in different tissues; nevertheless, its levels can be
                      regulated by genetic variants like methylation quantitative
                      trait loci (mQTLs), which can be used as a surrogate.We
                      scanned the whole genome for mQTLs and performed an
                      association study in 14 705 PDAC cases and 246 921 controls.
                      The methylation data were obtained from whole blood and
                      pancreatic cancer tissue through online databases. We used
                      the Pancreatic Cancer Cohort Consortium and the Pancreatic
                      Cancer Case-Control Consortium genome-wide association study
                      (GWAS) data as discovery phase and the Pancreatic Disease
                      Research consortium, the FinnGen project and the Japan
                      Pancreatic Cancer Research consortium GWAS as replication
                      phase.The C allele of 15q26.1-rs12905855 showed an
                      association with a decreased risk of PDAC (OR=0.90, $95\%$
                      CI 0.87 to 0.94, p=4.93×10-8 in the overall meta-analysis),
                      reaching genome-level statistical significance.
                      15q26.1-rs12905855 decreases the methylation of a
                      'C-phosphate-G' (CpG) site located in the promoter region of
                      the RCCD1 antisense (RCCD1-AS1) gene which, when expressed,
                      decreases the expression of the RCC1 domain-containing
                      (RCCD1) gene (part of a histone demethylase complex). Thus,
                      it is possible that the rs12905855 C-allele has a protective
                      role in PDAC development through an increase of RCCD1 gene
                      expression, made possible by the inactivity of RCCD1-AS1.We
                      identified a novel PDAC risk locus which modulates cancer
                      risk by controlling gene expression through DNA
                      methylation.},
      keywords     = {DNA Methylation (Other) / Genetic Variation (Other) /
                      Genetics (Other) / Germ-Line Mutation (Other) / Molecular
                      Epidemiology (Other)},
      cin          = {C070 / HD01 / C055},
      ddc          = {610},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)C055-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37130759},
      doi          = {10.1136/jmg-2022-108910},
      url          = {https://inrepo02.dkfz.de/record/275777},
}