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@ARTICLE{Chen:289896,
      author       = {Z. Chen and X. Guo and R. Tao and J. R. Huyghe and P. J.
                      Law and C. Fernandez-Rozadilla and J. Ping and G. Jia and J.
                      Long and C. Li and Q. Shen and Y. Xie and M. N. Timofeeva
                      and M. Thomas and S. L. Schmit and V. Díez-Obrero and M.
                      Devall and F. Moratalla-Navarro and J. Fernandez-Tajes and
                      C. Palles and K. Sherwood and S. E. W. Briggs and V. Svinti
                      and K. Donnelly and S. M. Farrington and J. Blackmur and P.
                      G. Vaughan-Shaw and X.-O. Shu and Y. Lu and P. Broderick and
                      J. Studd and T. A. Harrison and D. V. Conti and F. R.
                      Schumacher and M. Melas and G. Rennert and M.
                      Obón-Santacana and V. Martín-Sánchez and J. H. Oh and J.
                      Kim and S. H. Jee and K. J. Jung and S.-S. Kweon and M.-H.
                      Shin and A. Shin and Y.-O. Ahn and D.-H. Kim and I. Oze and
                      W. Wen and K. Matsuo and K. Matsuda and C. Tanikawa and Z.
                      Ren and Y.-T. Gao and W.-H. Jia and J. L. Hopper and M. A.
                      Jenkins and A. K. Win and R. K. Pai and J. C. Figueiredo and
                      R. W. Haile and S. Gallinger and M. O. Woods and P. A.
                      Newcomb and D. Duggan and J. P. Cheadle and R. Kaplan and R.
                      Kerr and D. Kerr and I. Kirac and J. Böhm and J.-P. Mecklin
                      and P. Jousilahti and P. Knekt and L. A. Aaltonen and H.
                      Rissanen and E. Pukkala and J. G. Eriksson and T. Cajuso and
                      U. Hänninen and J. Kondelin and K. Palin and T. Tanskanen
                      and L. Renkonen-Sinisalo and S. Männistö and D. Albanes
                      and S. J. Weinstein and E. Ruiz-Narvaez and J. R. Palmer and
                      D. D. Buchanan and E. A. Platz and K. Visvanathan and C. M.
                      Ulrich and E. Siegel and S. Brezina and A. Gsur and P. T.
                      Campbell and J. Chang-Claude$^*$ and M. Hoffmeister$^*$ and
                      H. Brenner$^*$ and M. L. Slattery and J. D. Potter and K. K.
                      Tsilidis and M. B. Schulze and M. J. Gunter and N. Murphy
                      and A. Castells and S. Castellví-Bel and L. Moreira and V.
                      Arndt$^*$ and A. Shcherbina and D. T. Bishop and G. G. Giles
                      and M. C. Southey and G. E. Idos and K. J. McDonnell and Z.
                      Abu-Ful and J. K. Greenson and K. Shulman and F. Lejbkowicz
                      and K. Offit and Y.-R. Su and R. Steinfelder and T. O. Keku
                      and B. van Guelpen and T. J. Hudson and H. Hampel and R.
                      Pearlman and S. I. Berndt and R. B. Hayes and M. E. Martinez
                      and S. S. Thomas and P. D. P. Pharoah and S. C. Larsson and
                      Y. Yen and H.-J. Lenz and E. White and L. Li and K. F.
                      Doheny and E. Pugh and T. Shelford and A. T. Chan and M.
                      Cruz-Correa and A. Lindblom and D. J. Hunter and A. D. Joshi
                      and C. Schafmayer and P. C. Scacheri and A. Kundaje and R.
                      E. Schoen and J. Hampe and Z. K. Stadler and P. Vodicka and
                      L. Vodickova and V. Vymetalkova and C. K. Edlund and W. J.
                      Gauderman and D. Shibata and A. Toland and S. Markowitz and
                      A. Kim and S. J. Chanock and F. van Duijnhoven and E. J. M.
                      Feskens and L. C. Sakoda and M. Gago-Dominguez and A. Wolk
                      and B. Pardini and L. M. FitzGerald and S. C. Lee and S.
                      Ogino and S. A. Bien and C. Kooperberg and C. I. Li and Y.
                      Lin and R. Prentice and C. Qu and S. Bézieau and T. Yamaji
                      and N. Sawada and M. Iwasaki and L. Le Marchand and A. H. Wu
                      and C. Qu and C. E. McNeil and G. Coetzee and C. Hayward and
                      I. J. Deary and S. E. Harris and E. Theodoratou and S. Reid
                      and M. Walker and L. Y. Ooi and K. S. Lau and H. Zhao and L.
                      Hsu and Q. Cai and M. G. Dunlop and S. B. Gruber and R. S.
                      Houlston and V. Moreno and G. Casey and U. Peters and I.
                      Tomlinson and W. Zheng},
      title        = {{F}ine-mapping analysis including over 254,000 {E}ast
                      {A}sian and {E}uropean descendants identifies 136 putative
                      colorectal cancer susceptibility genes.},
      journal      = {Nature Communications},
      volume       = {15},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DKFZ-2024-00888},
      pages        = {3557},
      year         = {2024},
      abstract     = {Genome-wide association studies (GWAS) have identified more
                      than 200 common genetic variants independently associated
                      with colorectal cancer (CRC) risk, but the causal variants
                      and target genes are mostly unknown. We sought to fine-map
                      all known CRC risk loci using GWAS data from 100,204 cases
                      and 154,587 controls of East Asian and European ancestry.
                      Our stepwise conditional analyses revealed 238 independent
                      association signals of CRC risk, each with a set of credible
                      causal variants (CCVs), of which 28 signals had a single
                      CCV. Our cis-eQTL/mQTL and colocalization analyses using
                      colorectal tissue-specific transcriptome and methylome data
                      separately from 1299 and 321 individuals, along with
                      functional genomic investigation, uncovered 136 putative CRC
                      susceptibility genes, including 56 genes not previously
                      reported. Analyses of single-cell RNA-seq data from
                      colorectal tissues revealed 17 putative CRC susceptibility
                      genes with distinct expression patterns in specific cell
                      types. Analyses of whole exome sequencing data provided
                      additional support for several target genes identified in
                      this study as CRC susceptibility genes. Enrichment analyses
                      of the 136 genes uncover pathways not previously linked to
                      CRC risk. Our study substantially expanded association
                      signals for CRC and provided additional insight into the
                      biological mechanisms underlying CRC development.},
      keywords     = {Humans / Colorectal Neoplasms: genetics / Genetic
                      Predisposition to Disease / Genome-Wide Association Study /
                      Asian People: genetics / White People: genetics /
                      Polymorphism, Single Nucleotide / Quantitative Trait Loci /
                      Exome Sequencing / Case-Control Studies / Transcriptome /
                      Chromosome Mapping / Male / Female / East Asian People},
      cin          = {C070 / C020 / C120 / HD01 / C071},
      ddc          = {500},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)C020-20160331 /
                      I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)C071-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38670944},
      pmc          = {pmc:PMC11053150},
      doi          = {10.1038/s41467-024-47399-x},
      url          = {https://inrepo02.dkfz.de/record/289896},
}