2024
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Chen Z, Guo X, Tao R, Huyghe J, Law P, Fernandez-Rozadilla C, Ping J, Jia G, Long J, Li C, Shen Q, Xie Y, Timofeeva M, Thomas M, Schmit S, Díez-Obrero V, Devall M, Moratalla-Navarro F, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu X, Lu Y, Broderick P, Studd J, Harrison T, Conti D, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Oh J, Kim J, Jee S, Jung K, Kweon S, Shin M, Shin A, Ahn Y, Kim D, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao Y, Jia W, Hopper J, Jenkins M, Win A, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin J, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Bishop D, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su Y, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez M, Thomas S, Pharoah P, Larsson S, Yen Y, Lenz H, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Edlund C, Gauderman W, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Pardini B, FitzGerald L, Lee S, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Yamaji T, Sawada N, Iwasaki M, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi L, Lau K, Zhao H, Hsu L, Cai Q, Dunlop M, Gruber S, Houlston R, Moreno V, Casey G, Peters U, Tomlinson I, Zheng W. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes. Nature Communications 2024, 15: 3557. PMID: 38670944, PMCID: PMC11053150, DOI: 10.1038/s41467-024-47399-x.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCredible causal variantsColorectal cancer susceptibility genesSusceptibility genesAssociation signalsAnalysis of single-cell RNA-seq dataAnalysis of whole-exome sequencing dataGenome-wide association study dataColorectal cancer risk lociSingle-cell RNA-seq dataTarget genesWhole-exome sequencing dataFunctional genomic investigationsFine-mapping analysisRNA-seq dataExome sequencing dataTissue-specific transcriptomesColorectal cancerCancer susceptibility genesCausal variantsFine-mappingRisk lociMethylome dataSequence dataGenomic investigations
2023
Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke
Xie Y, Acosta J, Ye Y, Demarais Z, Conlon C, Chen M, Zhao H, Falcone G. Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke. Stroke 2023, 54: 800-809. PMID: 36762557, PMCID: PMC10467223, DOI: 10.1161/strokeaha.122.040883.Peer-Reviewed Original ResearchConceptsGene-based testingRare genetic variationGene-based analysisGenetic variationAssociation studiesGenome-wide association studiesSingle-variant association analysisWide significance levelSusceptibility risk lociWide association studyDeleterious missense variantsMissense rare variantsBonferroni-corrected thresholdWhole-exome sequencing dataRare variantsSingle variant analysisHeritable traitRisk lociExome-wide studySequencing dataExome sequencing analysisAssociation analysisSequencing analysisMissense variantsTraits
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