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@ARTICLE{Chen:282345,
      author       = {Z. Chen and W. Song and X.-O. Shu and W. Wen and M. Devall
                      and C. Dampier and F. Moratalla-Navarro and Q. Cai and J.
                      Long and L. Van Kaer and L. Wu and J. R. Huyghe and M.
                      Thomas and L. Hsu and M. O. Woods and D. Albanes and D. D.
                      Buchanan and A. Gsur and M. Hoffmeister$^*$ and P. Vodicka
                      and A. Wolk and L. L. Marchand and A. H. Wu and A. I. Phipps
                      and V. Moreno and P. Ulrike and W. Zheng and G. Casey and X.
                      Guo},
      title        = {{N}ovel insights into genetic susceptibility for colorectal
                      cancer from transcriptome-wide association and functional
                      investigation.},
      journal      = {Journal of the National Cancer Institute},
      volume       = {116},
      number       = {1},
      issn         = {0027-8874},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2023-01729},
      pages        = {127-137},
      year         = {2024},
      note         = {2024 Jan 10;116(1):127-137},
      abstract     = {Transcriptome-wide association studies (TWAS) have been
                      successful in identifying candidate susceptibility genes for
                      colorectal cancer (CRC). To strengthen susceptibility gene
                      discovery, we conducted a large TWAS and an alternative
                      splicing-TWAS (sp-TWAS) in CRC using improved genetic
                      prediction models and performed in-depth functional
                      investigations.We analyzed RNA-sequencing (RNA-seq) data
                      from normal colon tissues and genotype data from 423
                      European descendants to build genetic prediction models of
                      gene expression and alternative splicing, and evaluated
                      model performance using independent RNA-seq data from normal
                      colon tissues of the Genotype-Tissue Expression Project. We
                      applied the verified models to genome-wide association
                      studies (GWAS) summary statistics among 58,131 CRC cases and
                      67,347 controls of European ancestry to evaluate
                      associations of genetically predicted gene expression and
                      alternative splicing with CRC risk. We performed in vitro
                      functional assays for three selected genes in multiple CRC
                      cell lines.We identified a total of 57 putative CRC
                      susceptibility genes, which included the 48 genes from TWAS
                      and 15 genes from sp-TWAS, at Bonferroni-corrected P < 0.05.
                      Of these, 16 genes were not previously implicated in CRC
                      susceptibility, including a gene PDE7B (6q23.3) at locus
                      previously not reported by CRC GWAS. Gene knockdown
                      experiments confirmed the oncogenic roles for two unreported
                      genes, TRPS1 and METRNL, and a recently reported gene,
                      C14orf166.This study discovered new putative susceptibility
                      genes of CRC and provided novel insights into the biological
                      mechanisms underlying CRC development.},
      keywords     = {Alternative splicing (Other) / Colorectal cancer (Other) /
                      TWAS (Other) / susceptibility genes (Other)},
      cin          = {C070},
      ddc          = {610},
      cid          = {I:(DE-He78)C070-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37632791},
      doi          = {10.1093/jnci/djad178},
      url          = {https://inrepo02.dkfz.de/record/282345},
}