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@ARTICLE{Huhn:136738,
      author       = {S. Huhn and M. I. da Silva Filho and T. Sanmuganantham and
                      T. Pichulik and C. Catalano$^*$ and B. Pardini and A.
                      Naccarati and V. Polakova-Vymetálkova and K. Jiraskova and
                      L. Vodickova and P. Vodicka and M. W. Löffler and L. Courth
                      and J. Wehkamp and F. V. N. Din and M. Timofeeva and S. M.
                      Farrington and L. Jansen$^*$ and K. Hemminki$^*$ and J.
                      Chang-Claude$^*$ and H. Brenner$^*$ and M. Hoffmeister$^*$
                      and M. G. Dunlop and A. N. R. Weber and A. Försti$^*$},
      title        = {{C}oding variants in {NOD}-like receptors: {A}n association
                      study on risk and survival of colorectal cancer.},
      journal      = {PLoS one},
      volume       = {13},
      number       = {6},
      issn         = {1932-6203},
      address      = {Lawrence, Kan.},
      publisher    = {PLoS},
      reportid     = {DKFZ-2018-01176},
      pages        = {e0199350 -},
      year         = {2018},
      abstract     = {Nod-like receptors (NLRs) are important innate pattern
                      recognition receptors and regulators of inflammation or play
                      a role during development. We systematically analysed 41
                      non-synonymous single nucleotide polymorphisms (SNPs) in 21
                      NLR genes in a Czech discovery cohort of sporadic colorectal
                      cancer (CRC) (1237 cases, 787 controls) for their
                      association with CRC risk and survival. Five SNPs were found
                      to be associated with CRC risk and eight with survival at
                      $5\%$ significance level. In a replication analysis using
                      data of two large genome-wide association studies (GWASs)
                      from Germany (DACHS: 1798 cases and 1810 controls) and
                      Scotland (2210 cases and 9350 controls) the associations
                      found in the Czech discovery set were not confirmed.
                      However, expression analysis in human gut-related tissues
                      and immune cells revealed that the NLRs associated with CRC
                      risk or survival in the discovery set were expressed in
                      primary human colon or rectum cells, CRC tissue and/or cell
                      lines, providing preliminary evidence for a potential
                      involvement of NLRs in general in CRC development and/or
                      progression. Most interesting was the finding that the
                      enigmatic development-related NLRP5 (also known as MATER)
                      was not expressed in normal colon tissue but in colon cancer
                      tissue and cell lines. Future studies may show whether
                      regulatory variants instead of coding variants might affect
                      the expression of NLRs and contribute to CRC risk and
                      survival.},
      cin          = {C050 / C070 / G110 / C020 / L101},
      ddc          = {500},
      cid          = {I:(DE-He78)C050-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)G110-20160331 / I:(DE-He78)C020-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29928061},
      pmc          = {pmc:PMC6013205},
      doi          = {10.1371/journal.pone.0199350},
      url          = {https://inrepo02.dkfz.de/record/136738},
}