{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chen Z"],"funding":["World Health Organization","NCATS NIH HHS","NIEHS NIH HHS","NCI NIH HHS","U.S. Department of Health & Human Services | National Institutes of Health (NIH)","Cancer Foundation Finland sr","U.S. Department of Health & Human Services | National Institutes of Health"],"pagination":["3557"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11053150"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_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 gene"],"journal":["Nature communications"],"pubmed_title":["Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes."],"pmcid":["PMC11053150"],"funding_grant_id":["R01 CA269589","R37 CA227130","P30 CA008748","R01CA188214","P01 CA196569","P30 ES010126","UL1 TR001863","R37CA227130","U01 CA206110","001","230068","U01 CA261339","P30 CA068485","U01 CA272529","R01 CA263318","R01 CA188214"],"pubmed_authors":["Siegel E","Haile RW","Potter JD","Southey MC","Berndt SI","Lin Y","Prentice R","Le Marchand L","Castellvi-Bel S","Ahn YO","Slattery ML","Wolk A","Matsuda K","Martinez ME","Walker M","Palles C","Scacheri PC","Melas M","Toland A","Abu-Ful Z","Pardini B","Moratalla-Navarro F","Moreira L","Vymetalkova V","Fernandez-Tajes J","Oh JH","Platz EA","Larsson SC","Donnelly K","Keku TO","Gallinger S","Cheadle JP","White E","Newcomb PA","FitzGerald LM","Zhao H","Kim DH","McDonnell KJ","Yamaji T","Obon-Santacana M","Law PJ","Lee SC","Lindblom A","Ogino S","Rennert G","Vodickova L","Moreno V","Shin A","Jousilahti P","Wu AH","Cruz-Correa M","Hsu L","Schumacher FR","Offit K","Pharoah PDP","Tanikawa C","Palin K","Chen Z","Huyghe JR","Visvanathan K","Peters U","Ulrich CM","Renkonen-Sinisalo L","Gunter MJ","Sherwood K","Chanock SJ","Idos GE","Li C","Hayes RB","Li L","Kundaje A","Broderick P","Eriksson JG","Pukkala E","Hanninen U","Houlston RS","Cai Q","Woods MO","Jia G","Farrington SM","Reid S","Hunter DJ","Weinstein SJ","Schmit SL","Murphy N","Gao YT","Buchanan DD","Stadler ZK","Coetzee G","Edlund CK","Chan AT","Martin-Sanchez V","Mannisto S","Jung KJ","Pai RK","Vodicka P","Jia WH","Dunlop MG","Feskens EJM","Sawada N","Hudson TJ","Steinfelder R","Mecklin JP","Blackmur J","Shen Q","Guo X","van Duijnhoven F","Schoen RE","Palmer JR","Aaltonen LA","Deary IJ","Harris SE","Rissanen H","Kerr D","Doheny KF","Hayward C","Lenz HJ","Hampe J","Shcherbina A","Kerr R","Zheng W","Kweon SS","Lejbkowicz F","Bohm J","Castells A","Devall M","Lau KS","Diez-Obrero V","Shin MH","Brenner H","Gsur A","Sakoda LC","Hoffmeister M","Qu C","Ping J","Kim A","Greenson JK","Shibata D","Ren Z","Duggan D","Tanskanen T","Kim J","Pugh E","Gauderman WJ","Schulze MB","Thomas M","Schafmayer C","Bien SA","Casey G","Hampel H","Win AK","Kaplan R","Gago-Dominguez M","Kirac I","Yen Y","Fernandez-Rozadilla C","Knekt P","Albanes D","Campbell PT","Kooperberg C","Lu Y","Bishop DT","Studd J","Matsuo K","Wen W","Ruiz-Narvaez E","Briggs SEW","Thomas SS","Li CI","Xie Y","Chang-Claude J","Joshi AD","Bezieau S","Vaughan-Shaw PG","Kondelin J","van Guelpen B","Su YR","McNeil CE","Tsilidis KK","Figueiredo JC","Gruber SB","Arndt V","Markowitz S","Ooi LY","Svinti V","Long J","Tomlinson I","Jee SH","Giles GG","Iwasaki M","Brezina S","Pearlman R","Shulman K","Shu XO","Cajuso T","Conti DV","Oze I","Hopper JL","Harrison TA","Jenkins MA","Tao R","Theodoratou E","Timofeeva MN","Shelford T"],"additional_accession":[]},"is_claimable":false,"name":"Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes.","description":"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 gene","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-07-15T08:01:27.882Z","creation":"2026-07-01T03:12:34.317Z"},"accession":"S-EPMC11053150","cross_references":{"pubmed":["38670944"],"doi":["10.1038/s41467-024-47399-x"]}}