2020
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank
Bi W, Fritsche L, Mukherjee B, Kim S, Lee S. A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank. American Journal Of Human Genetics 2020, 107: 222-233. PMID: 32589924, PMCID: PMC7413891, DOI: 10.1016/j.ajhg.2020.06.003.Peer-Reviewed Original ResearchConceptsControlled type I error ratesTime-to-event data analysisType I error rateGenetic studies of human diseasesGenome-wide significance levelTime-to-event phenotypesSaddlepoint approximationGenome-wide analysisEuropean ancestry samplesMinor allele frequencyStudy of human diseaseElectronic health recordsCox PH regression modelRegression modelsStandard Wald testProportional hazardsBinary phenotypesData analysisAncestry samplesGenetic studiesHealth recordsUK BiobankAllele frequenciesInpatient dataCox proportional hazards
2018
Subset-Based Analysis Using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes
Yu Y, Xia L, Lee S, Zhou X, Stringham H, Boehnke M, Mukherjee B. Subset-Based Analysis Using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes. Human Heredity 2018, 83: 283-314. PMID: 31132756, PMCID: PMC7034441, DOI: 10.1159/000496867.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCholesterolCohort StudiesComputer SimulationC-Reactive ProteinFinlandGene FrequencyGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLipoproteins, LDLMeta-Analysis as TopicModels, GeneticPhenotypePolymorphism, Single NucleotideConceptsPresence of G-E interactionsGenetic associationHeterogeneity of genetic effectsDiscovery of genetic associationsGene-environment (G-EMarginal genetic effectsG-E interactionsGenome-wide association studiesGene-environment interactionsGenetic effectsData examplesSimulation studySingle nucleotide polymorphismsGene-environmentAssociation studiesAssociation analysisScreening toolMarginal associationNucleotide polymorphismsPresence of heterogeneityAssociationEnvironmental factorsIncreased powerMultiple studiesG-E
2014
The Role of Environmental Heterogeneity in Meta‐Analysis of Gene–Environment Interactions With Quantitative Traits
Li S, Mukherjee B, Taylor J, Rice K, Wen X, Rice J, Stringham H, Boehnke M. The Role of Environmental Heterogeneity in Meta‐Analysis of Gene–Environment Interactions With Quantitative Traits. Genetic Epidemiology 2014, 38: 416-429. PMID: 24801060, PMCID: PMC4108593, DOI: 10.1002/gepi.21810.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-Ketoglutarate-Dependent Dioxygenase FTOBiasBody Mass IndexCase-Control StudiesCholesterol, HDLCohort StudiesDiabetes Mellitus, Type 2Gene FrequencyGene-Environment InteractionGenetic Predisposition to DiseaseHumansMeta-Analysis as TopicModels, GeneticPhenotypePolymorphism, Single NucleotideProteinsQuantitative Trait, HeritableConceptsIndividual level dataMeta-analysisInverse-variance weighted meta-analysisEnvironmental heterogeneityGene-environment interaction studiesInverse-variance weighted estimatorMeta-analysis of interactionsStudy of type 2 diabetesGene-environment interactionsBody mass indexMeta-regression approachSingle nucleotide polymorphismsAdaptive weighted estimatorFTO geneType 2 diabetesMass indexMeta-regressionQuantitative traitsSummary statisticsCholesterol dataNucleotide polymorphismsLevel dataUnivariate summary statisticsData harmonizationEnvironmental covariates
2011
High Risk of Colorectal and Endometrial Cancer in Ashkenazi Families With the MSH2 A636P Founder Mutation
Mukherjee B, Rennert G, Ahn J, Dishon S, Lejbkowicz F, Rennert H, Shiovitz S, Moreno V, Gruber S. High Risk of Colorectal and Endometrial Cancer in Ashkenazi Families With the MSH2 A636P Founder Mutation. Gastroenterology 2011, 140: 1919-1926. PMID: 21419771, PMCID: PMC4835182, DOI: 10.1053/j.gastro.2011.02.071.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge FactorsAgedAged, 80 and overCase-Control StudiesColorectal Neoplasms, Hereditary NonpolyposisEndometrial NeoplasmsFemaleFounder EffectGene FrequencyGenetic Predisposition to DiseaseGenetic TestingHeredityHumansIsraelJewsLikelihood FunctionsMaleMass ScreeningMiddle AgedMutationMutS Homolog 2 ProteinPedigreePenetrancePhenotypeProportional Hazards ModelsRegistriesRisk AssessmentRisk FactorsSex FactorsYoung AdultConceptsRisk of colorectal cancerHazard ratioColorectal cancerCumulative riskPopulation-basedLifetime risk of colorectal cancerCumulative risk of colorectal cancerEstimates of colorectal cancerAge-specific cumulative riskHigh risk of colorectalCases of colorectal cancerModified segregation analysisRisk of colorectalClinical genetics servicesClinic-based sampleEndometrial cancerRisk of ECCase-control studyGenetic servicesLynch syndromeCancer screeningEC riskLifetime riskAshkenazi familiesEstimated penetrance