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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},
}