2015
Genetic basis of autoimmunity
Marson A, Housley WJ, Hafler DA. Genetic basis of autoimmunity. Journal Of Clinical Investigation 2015, 125: 2234-2241. PMID: 26030227, PMCID: PMC4497748, DOI: 10.1172/jci78086.Peer-Reviewed Original ResearchConceptsGenetic basisInterpretation of GWASMultiple genomic datasetsWide association studyCommon human autoimmune diseasesRelevant cell typesCellular conditionsCellular phenotypesGenomic datasetsGene expressionDense genotypingBiological pathwaysAssociation studiesHuman autoimmune diseasesNucleotide variantsCell typesAutoimmune diseasesPrimary immune cellsUnbiased viewMonogenic mutationsPolygenic risk factorsEssential mechanismComplex disorderEnvironmental factorsNovel diagnostics
2014
SP0104 The Molecular Basis of Autoimmune Disease
Hafler D. SP0104 The Molecular Basis of Autoimmune Disease. Annals Of The Rheumatic Diseases 2014, 73: 27. DOI: 10.1136/annrheumdis-2014-eular.6254.Peer-Reviewed Original ResearchGenome-wide association studiesNon-coding regionsConsensus transcription factorNumerous genetic associationsDistinct cell typesDifferent autoimmune diseasesAutoimmune diseasesChromatin mapsTh17 cellsGWAS hitsHigh NaCl levelsTranscription factorsDNA sequencesMolecular basisGenetic dataCausal mutationsDisease riskAssociation studiesMechanistic basisCommon SNPsNucleotide variantsAP-1Risk SNPsCell typesSpecific disruption