2021
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes
Bi W, Zhou W, Dey R, Mukherjee B, Sampson J, Lee S. Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes. American Journal Of Human Genetics 2021, 108: 825-839. PMID: 33836139, PMCID: PMC8206161, DOI: 10.1016/j.ajhg.2021.03.019.Peer-Reviewed Original ResearchConceptsOrdinal categorical phenotypesGenome-wide association studiesCategorical phenotypesGenome-wide significant variantsRare variantsPhenotype distributionControlled type I error ratesType I error rateMixed model approachArray genotypingAssociation studiesCommon variantsQuantitative traitsSignificant variantsLogistic mixed modelsLack of analysis toolsUK BiobankLinear mixed model approachPhenotypeAssociation TestVariantsMixed modelsSignificance levelMAFTraits
2016
Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk
Zeng C, Matsuda K, Jia W, Chang J, Kweon S, Xiang Y, Shin A, Jee S, Kim D, Zhang B, Cai Q, Guo X, Long J, Wang N, Courtney R, Pan Z, Wu C, Takahashi A, Shin M, Matsuo K, Matsuda F, Gao Y, Oh J, Kim S, Jung K, Ahn Y, Ren Z, Li H, Wu J, Shi J, Wen W, Yang G, Li B, Ji B, Brenner H, Schoen R, Küry S, Gruber S, Schumacher F, Stenzel S, Casey G, Hopper J, Jenkins M, Kim H, Jeong J, Park J, Tajima K, Cho S, Kubo M, Shu X, Lin Y, Zeng Y, Zheng W, Baron J, Berndt S, Bezieau S, Brenner H, Caan B, Carlson C, Casey G, Chan A, Chang-Claude J, Chanock S, Conti D, Curtis K, Duggan D, Fuchs C, Gallinger S, Giovannucci E, Gruber S, Haile R, Harrison T, Hayes R, Hoffmeister M, Hopper J, Hsu L, Hudson T, Hunter D, Hutter C, Jackson R, Jenkins M, Jiao S, Küry S, Le Marchand L, Lemire M, Lindor N, Ma J, Newcomb P, Peters U, Potter J, Qu C, Schoen R, Schumacher F, Seminara D, Slattery M, Thibodeau S, White E, Zanke B, Blalock K, Campbell P, Casey G, Conti D, Edlund C, Figueiredo J, Gauderman W, Gong J, Green R, Gruber S, Harju J, Harrison T, Jacobs E, Jenkins M, Jiao S, Li L, Lin D, Manion F, Moreno V, Mukherjee B, Peters U, Raskin L, Schumacher F, Seminara D, Severi G, Stenzel S, Thomas D. Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. Gastroenterology 2016, 150: 1633-1645. PMID: 26965516, PMCID: PMC4909543, DOI: 10.1053/j.gastro.2016.02.076.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAsian PeopleBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsCase-Control StudiesColorectal NeoplasmsEukaryotic Initiation Factor-3FemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideQb-SNARE ProteinsRibosomal ProteinsRisk FactorsSteroid 17-alpha-HydroxylaseSuppressor of Cytokine Signaling ProteinsYoung AdultConceptsEukaryotic translation initiation factor 3Translation initiation factor 3Ribosomal protein S2Initiation factor 3Transcription factor EBSOCS boxProtein S2Risk variantsReceptor domainSusceptibility lociProtein-coding genesGenome-wide association studiesFactor 3East Asian ancestryNearby genesEpigenomic databasesGenetic variationRisk lociGene expressionAutophagy pathwayAssociation studiesProtein synthesisLociGenesSignificant variants