% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Catalano:148815,
      author       = {C. Catalano$^*$ and M. I. da Silva Filho$^*$ and C.
                      Frank$^*$ and S. Lu and K. Jiraskova and V. Vymetalkova and
                      M. Levy and V. Liska and O. Vycital and A. Naccarati and L.
                      Vodickova and K. Hemminki$^*$ and P. Vodicka and A. N. R.
                      Weber and A. Försti$^*$},
      title        = {{E}pistatic effect of {TLR}3 and
                      c{GAS}-{STING}-{IKK}ε-{TBK}1-{IFN} signaling variants on
                      colorectal cancer risk.},
      journal      = {Cancer medicine},
      volume       = {9},
      number       = {4},
      issn         = {2045-7634},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DKFZ-2020-00007},
      pages        = {1473-1484},
      year         = {2020},
      note         = {2020 Feb;9(4):1473-1484#EA:C050#LA:B062#LA:C050#},
      abstract     = {The TLR3/cGAS-STING-IFN signaling has recently been
                      reported to be disturbed in colorectal cancer due to
                      deregulated expression of the genes involved. Our study
                      aimed to investigate the influence of potential regulatory
                      variants in these genes on the risk of sporadic colorectal
                      cancer (CRC) in a Czech cohort of 1424 CRC patients and 1114
                      healthy controls.The variants in the TLR3, CGAS, TMEM173,
                      IKBKE, and TBK1 genes were selected using various online
                      bioinformatic tools, such as UCSC browser, HaploReg,
                      Regulome DB, Gtex Portal, SIFT, PolyPhen2, and miRNA
                      prediction tools.Logistic regression analysis adjusted for
                      age and sex detected a nominal association between CRC risk
                      and three variants, CGAS rs72960018 (OR: 1.68, $95\%$ CI:
                      1.11-2.53, P-value = .01), CGAS rs9352000 (OR: 2.02,
                      $95\%$ CI: 1.07-3.84, P-value = .03) and TMEM173
                      rs13153461 (OR: 1.53, $95\%$ CI: 1.03-2.27,
                      P-value = .03). Their cumulative effect revealed a
                      threefold increased CRC risk in carriers of 5-6 risk alleles
                      compared to those with 0-2 risk alleles. Epistatic
                      interactions between these genes and the previously
                      genotyped IFNAR1, IFNAR2, IFNA, IFNB, IFNK, IFNW, IRF3, and
                      IRF7 genes, were computed to test their effect on CRC risk.
                      Overall, we obtained nine pair-wise interactions within and
                      between the CGAS, TMEM173, IKBKE, and TBK1 genes. Two of
                      them remained statistically significant after Bonferroni
                      correction. Additional 52 interactions were observed when
                      IFN variants were added to the analysis.Our data suggest
                      that epistatic interactions and a high number of risk
                      alleles may play an important role in CRC carcinogenesis,
                      offering novel biological understanding for the CRC
                      management.},
      cin          = {C050 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)C050-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31869529},
      doi          = {10.1002/cam4.2804},
      url          = {https://inrepo02.dkfz.de/record/148815},
}