2022
Integrative analyses for the identification of idiopathic pulmonary fibrosis-associated genes and shared loci with other diseases
Chen M, Zhang Y, Adams T, Ji D, Jiang W, Wain LV, Cho M, Kaminski N, Zhao H. Integrative analyses for the identification of idiopathic pulmonary fibrosis-associated genes and shared loci with other diseases. Thorax 2022, 78: 792-798. PMID: 36216496, PMCID: PMC10083187, DOI: 10.1136/thorax-2021-217703.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association analysisLocal genetic correlationsSingle-cell expression dataCandidate genesTranscription factorsIntegrative analysisGenomic regionsGenetic correlationsExpression dataTF target genesComplex genetic architectureTF binding sitesWide association studyPower of GWASSpecific DEGsGenetic architectureNew genesNovel genesCausal genesTarget genesGenetic basisEnrichment analysisAssociation studiesRegulatory roleAssociation analysisBAL Transcriptomes Characterize Idiopathic Pulmonary Fibrosis Endotypes With Prognostic Impact
De Sadeleer LJ, Verleden SE, Schupp JC, McDonough JE, Goos T, Yserbyt J, Bargagli E, Rottoli P, Kaminski N, Prasse A, Wuyts WA. BAL Transcriptomes Characterize Idiopathic Pulmonary Fibrosis Endotypes With Prognostic Impact. CHEST Journal 2022, 161: 1576-1588. PMID: 35063449, PMCID: PMC9424328, DOI: 10.1016/j.chest.2021.12.668.Peer-Reviewed Original ResearchConceptsIdiopathic pulmonary fibrosisIPF samplesIndependent validation cohortAvailable gene expression datasetsClinical characteristicsPrognostic impactWorse survivalPathophysiologic mechanismsPulmonary fibrosisClinical evolutionClinical variablesValidation cohortEnrichment analysisBAL samplesSurvival-associated genesBlood samplesEndotypesStudy designControl participantsMitochondrial dysfunctionPatientsFibrosisSurvivalTranscription factorsNumeric trends
2016
Post-GWAS Prioritization Through Data Integration Provides Novel Insights on Chronic Obstructive Pulmonary Disease
Lu Q, Jin C, Sun J, Bowler R, Kechris K, Kaminski N, Zhao H. Post-GWAS Prioritization Through Data Integration Provides Novel Insights on Chronic Obstructive Pulmonary Disease. Statistics In Biosciences 2016, 9: 605-621. PMID: 27812370, PMCID: PMC5087812, DOI: 10.1007/s12561-016-9151-2.Peer-Reviewed Original ResearchGenome-wide association studiesFunctional annotationGenome-wide significance thresholdNovel insightsComplex human diseasesGWAS summary statisticsPotential risk locusComplex disease studiesEpigenomic annotationsGWAS signalsCOPD geneticsEnrichment analysisRisk lociIntegrative analysisAssociation studiesHuman diseasesGenetic contributionSignal prioritizationSignificance thresholdAnnotationUnprecedented opportunityBiological findingsData integrationLociSummary statistics