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
2015
Genome-wide association study of colorectal cancer identifies six new susceptibility loci
Schumacher FR, Schmit SL, Jiao S, Edlund CK, Wang H, Zhang B, Hsu L, Huang SC, Fischer CP, Harju JF, Idos GE, Lejbkowicz F, Manion FJ, McDonnell K, McNeil CE, Melas M, Rennert HS, Shi W, Thomas DC, Van Den Berg DJ, Hutter CM, Aragaki AK, Butterbach K, Caan BJ, Carlson CS, Chanock SJ, Curtis KR, Fuchs CS, Gala M, Giovannucci EL, Gogarten SM, Hayes RB, Henderson B, Hunter DJ, Jackson RD, Kolonel LN, Kooperberg C, Küry S, LaCroix A, Laurie CC, Laurie CA, Lemire M, Levine D, Ma J, Makar KW, Qu C, Taverna D, Ulrich CM, Wu K, Kono S, West DW, Berndt SI, Bezieau S, Brenner H, Campbell PT, Chan AT, Chang-Claude J, Coetzee GA, Conti DV, Duggan D, Figueiredo JC, Fortini BK, Gallinger SJ, Gauderman WJ, Giles G, Green R, Haile R, Harrison TA, Hoffmeister M, Hopper JL, Hudson TJ, Jacobs E, Iwasaki M, Jee SH, Jenkins M, Jia WH, Joshi A, Li L, Lindor NM, Matsuo K, Moreno V, Mukherjee B, Newcomb PA, Potter JD, Raskin L, Rennert G, Rosse S, Severi G, Schoen RE, Seminara D, Shu XO, Slattery ML, Tsugane S, White E, Xiang YB, Zanke BW, Zheng W, Le Marchand L, Casey G, Gruber SB, Peters U. Genome-wide association study of colorectal cancer identifies six new susceptibility loci. Nature Communications 2015, 6: 7138. PMID: 26151821, PMCID: PMC4967357, DOI: 10.1038/ncomms8138.Peer-Reviewed Original ResearchConceptsNew susceptibility lociAssociation studiesSusceptibility lociSignificant genetic lociGenome-wide association studiesGenome-wide thresholdCommon genetic variantsRare pathogenic mutationsTwo-stage association studyGenetic lociGenetic epidemiology studiesGenetic variantsLociUnderlying biological mechanismsPathogenic mutationsBiological mechanismsAsian ConsortiumGenetic susceptibilityMutationsAdditional insightColorectal cancerCancerVariants
2008
Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data
Sinha S, Gruber S, Mukherjee B, Rennert G. Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data. The International Journal Of Biostatistics 2008, 4: article 6. PMID: 20231916, PMCID: PMC2835450, DOI: 10.2202/1557-4679.1079.Peer-Reviewed Original ResearchConceptsCase-control studyUnphased genotype dataHardy-Weinberg equilibriumLocus-specific genotype dataGenotype dataBeta-Carotene Cancer Prevention StudyCancer Prevention StudyCase-control study designStudy of breast cancer patientsMatched case-control studyCase-control designPhasing of haplotypesDisease risk modelsBreast cancer patientsPrevention StudyHaplotype effectsStudy designGametic phasePolymorphic lociHaplotype frequenciesCancer patientsLociConditional likelihood approachAssociationHaplotypes