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@ARTICLE{Guo:164059,
      author       = {X. Guo and W. Lin and W. Wen and J. Huyghe and S. Bien and
                      Q. Cai and T. Harrison and Z. Chen and C. Qu and J. Bao and
                      J. Long and Y. Yuan and F. Wang and M. Bai and G. R.
                      Abecasis and D. Albanes and S. I. Berndt and S. Bézieau and
                      D. T. Bishop and H. Brenner$^*$ and S. Buch and A.
                      Burnett-Hartman and P. T. Campbell and S. Castellví-Bel and
                      A. T. Chan and J. Chang-Claude$^*$ and S. J. Chanock and S.
                      H. Cho and D. V. Conti and A. de la Chapelle and E. J.
                      Feskens and S. J. Gallinger and G. G. Giles and P. J.
                      Goodman and A. Gsur and M. Guinter and M. J. Gunter and J.
                      Hampe and H. Hampel and R. B. Hayes and M. Hoffmeister$^*$
                      and E. Kampman and H. M. Kang and T. O. Keku and H. R. Kim
                      and L. Le Marchand and S. C. Lee and C. I. Li and L. Li and
                      A. Lindblom and N. Lindor and R. L. Milne and V. Moreno and
                      N. Murphy and P. A. Newcomb and D. A. Nickerson and K. Offit
                      and R. Pearlman and P. D. P. Pharoah and E. A. Platz and J.
                      D. Potter and G. Rennert and L. C. Sakoda and C. Schafmayer
                      and S. L. Schmit and R. E. Schoen and F. R. Schumacher and
                      M. L. Slattery and Y.-R. Su and C. M. Tangen and C. M.
                      Ulrich and F. J. van Duijnhoven and B. Van Guelpen and K.
                      Visvanathan and P. Vodicka and L. Vodickova and V.
                      Vymetalkova and X. Wang and E. White and A. Wolk and M. O.
                      Woods and G. Casey and L. Hsu and M. A. Jenkins and S. B.
                      Gruber and U. Peters and W. Zheng},
      title        = {{I}dentifying novel susceptibility genes for colorectal
                      cancer risk from a transcriptome-wide association study of
                      125,478 subjects.},
      journal      = {Gastroenterology},
      volume       = {160},
      number       = {4},
      issn         = {0016-5085},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {Saunders},
      reportid     = {DKFZ-2020-02227},
      pages        = {1164-1178.e6},
      year         = {2021},
      note         = {2021 Mar;160(4):1164-1178.e6},
      abstract     = {Susceptibility genes and the underlying mechanisms for the
                      majority of risk loci identified by genome-wide association
                      studies (GWAS) for colorectal cancer (CRC) risk remain
                      largely unknown. We conducted a transcriptome-wide
                      association study (TWAS) to identify putative susceptibility
                      genes.Gene-expression prediction models were built using
                      transcriptome and genetic data from the 284 normal
                      transverse colon tissues of European descendants from the
                      Genotype-Tissue Expression (GTEx), and model performance was
                      evaluated using data from The Cancer Genome Atlas (TCGA, n =
                      355). We applied the gene-expression prediction models and
                      GWAS data to evaluate associations of genetically predicted
                      gene-expression with CRC risk in 58,131 CRC cases and 67,347
                      controls of European ancestry. Dual-luciferase reporter
                      assays and knockdown experiments in CRC cells and tumor
                      xenografts were conducted.We identified 25 genes associated
                      with CRC risk at a Bonferroni-corrected threshold of P < 9.1
                      × 10-6, including genes in four novel loci, PYGL (14q22.1),
                      RPL28 (19q13.42), CAPN12 (19q13.2), MYH7B (20q11.22), and
                      MAP1L3CA (20q11.22). In nine known GWAS-identified loci, we
                      uncovered nine genes that have not been previously reported,
                      whereas four genes remained statistically significant after
                      adjusting for the lead risk variant of the locus. Through
                      colocalization analysis in GWAS loci, we additionally
                      identified 12 putative susceptibility genes that were
                      supported by TWAS analysis at P < 0.01. We showed that risk
                      allele of the lead risk variant rs1741640 affected the
                      promoter activity of CABLES2. Knockdown experiments
                      confirmed that CABLES2 plays a vital role in colorectal
                      carcinogenesis.Our study reveals new putative susceptibility
                      genes and provides new insight into the biological
                      mechanisms underlying CRC development.},
      cin          = {C070 / C120 / C020},
      ddc          = {610},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
                      I:(DE-He78)C020-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33058866},
      doi          = {10.1053/j.gastro.2020.08.062},
      url          = {https://inrepo02.dkfz.de/record/164059},
}