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 statisticsGenome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia
Fingerlin TE, Zhang W, Yang IV, Ainsworth HC, Russell PH, Blumhagen RZ, Schwarz MI, Brown KK, Steele MP, Loyd JE, Cosgrove GP, Lynch DA, Groshong S, Collard HR, Wolters PJ, Bradford WZ, Kossen K, Seiwert SD, du Bois RM, Garcia CK, Devine MS, Gudmundsson G, Isaksson HJ, Kaminski N, Zhang Y, Gibson KF, Lancaster LH, Maher TM, Molyneaux PL, Wells AU, Moffatt MF, Selman M, Pardo A, Kim DS, Crapo JD, Make BJ, Regan EA, Walek DS, Daniel JJ, Kamatani Y, Zelenika D, Murphy E, Smith K, McKean D, Pedersen BS, Talbert J, Powers J, Markin CR, Beckman KB, Lathrop M, Freed B, Langefeld CD, Schwartz DA. Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia. BMC Genomic Data 2016, 17: 74. PMID: 27266705, PMCID: PMC4895966, DOI: 10.1186/s12863-016-0377-2.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedChromosomes, Human, Pair 6FemaleGene Expression ProfilingGene Expression RegulationGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHLA-DQ beta-ChainsHLA-DRB1 ChainsHumansIdiopathic Pulmonary FibrosisLinkage DisequilibriumMaleMiddle AgedPulmonary FibrosisSequence Analysis, RNAConceptsRisk lociGenome-wide single nucleotide polymorphism (SNP) dataGenome-wide significant associationSingle nucleotide polymorphism dataGenome-wide genotypesRNA sequencing studiesNucleotide polymorphism dataTargeted gene expressionIdiopathic interstitial pneumoniaHigh linkage disequilibriumLung tissueGene regulationHLA allelesRNA sequencingPolymorphism dataRisk allelesGene expressionChromosome 6Protein structureInterstitial pneumoniaHLA regionSequencing studiesGenetic risk allelesAssociation analysisReplication genotyping