2023
Beyond genome-wide association studies: Investigating the role of noncoding regulatory elements in primary sclerosing cholangitis
Pratt H, Wu T, Elhajjajy S, Zhou J, Fitzgerald K, Fazzio T, Weng Z, Pratt D. Beyond genome-wide association studies: Investigating the role of noncoding regulatory elements in primary sclerosing cholangitis. Hepatology Communications 2023, 7: e0242. PMID: 37756045, PMCID: PMC10531193, DOI: 10.1097/hc9.0000000000000242.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesRegulatory element activityRegulatory elementsElement activityAssociation studiesCell type-specific regulatory elementsPrimary sclerosing cholangitisNoncoding regions of DNANoncoding risk variantsRegulatory element functionNoncoding regulatory elementsPrimary sclerosing cholangitis patientsRegions of DNANoncoding variantsATAC-seqRisk lociEpigenomic datasetsNoncoding regionsRNA-seqEpigenomic studiesRisk variantsSclerosing cholangitisT cellsT cell responses to antigen stimulationPeripheral CD4+ T cells
2017
Mapping the chromatin and RNA expression landscapes of human macrophages to interrogate the function of disease-associated genetic polymorphisms
Martins A, Narayanan M, Fixsen B, Tsang J. Mapping the chromatin and RNA expression landscapes of human macrophages to interrogate the function of disease-associated genetic polymorphisms. The Journal Of Immunology 2017, 198: 59.15-59.15. DOI: 10.4049/jimmunol.198.supp.59.15.Peer-Reviewed Original ResearchSingle-nucleotide polymorphismsRegulatory elementsDisease-associated genetic polymorphismsGenome-wide association studiesGene expressionRegulatory element activityIdentified many single-nucleotide polymorphismsNon-coding regionsCondition-dependent activityHistone 3 lysineModulate gene expressionResponse to diverse stimuliMeasure gene expressionChromatin stateAssociation studiesTranscriptional networksGene modulesExpression landscapeFunctional enrichmentElement activityDiverse stimuliPromoter/enhancer activityGenetic polymorphismsDevelopment of diseaseChromatin
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