2023
Genetic and geographic influence on phenotypic variation in European sarcoidosis patients
Freitag-Wolf S, Schupp J, Frye B, Fischer A, Anwar R, Kieszko R, Mihailović-Vučinić V, Milanowski J, Jovanovic D, Zissel G, Bargagli E, Rottoli P, Bumbacea D, Jonkers R, Ho L, Gaede K, Dubaniewicz A, Marshall B, Günther A, Petrek M, Keane M, Haraldsdottir S, Bonella F, Grah C, Peroš-Golubičić T, Kadija Z, Pabst S, Grohé C, Strausz J, Safrankova M, Millar A, Homolka J, Wuyts W, Spencer L, Pfeifer M, Valeyre D, Poletti V, Wirtz H, Prasse A, Schreiber S, Dempfle A, Müller-Quernheim J. Genetic and geographic influence on phenotypic variation in European sarcoidosis patients. Frontiers In Medicine 2023, 10: 1218106. PMID: 37621457, PMCID: PMC10446882, DOI: 10.3389/fmed.2023.1218106.Peer-Reviewed Original ResearchAcute onsetOrgan involvementSarcoidosis phenotypesSingle nucleotide polymorphismsType of onsetCompetent ethics committeeGenetic variantsSarcoidosis cohortSarcoidosis patientsClinical featuresAcute diseaseVariable diseaseFull cohortClinical phenotypeHLA polymorphismObserved associationsEthics CommitteeOnset phenotypeStrong associationGenetic polymorphismsSignificant genetic associationSarcoidosisPatientsCohortAssociation
2021
Transcriptomics of bronchoalveolar lavage cells identifies new molecular endotypes of sarcoidosis
Vukmirovic M, Yan X, Gibson KF, Gulati M, Schupp JC, DeIuliis G, Adams TS, Hu B, Mihaljinec A, Woolard TN, Lynn H, Emeagwali N, Herzog EL, Chen ES, Morris A, Leader JK, Zhang Y, Garcia JGN, Maier LA, Collman RG, Drake WP, Becich MJ, Hochheiser H, Wisniewski SR, Benos PV, Moller DR, Prasse A, Koth LL, Kaminski N. Transcriptomics of bronchoalveolar lavage cells identifies new molecular endotypes of sarcoidosis. European Respiratory Journal 2021, 58: 2002950. PMID: 34083402, PMCID: PMC9759791, DOI: 10.1183/13993003.02950-2020.Peer-Reviewed Original ResearchConceptsWeighted gene co-expression network analysisGene co-expression network analysisCo-expression network analysisGene expression programsGene expression patternsDistinct transcriptional programsImmune response pathwaysIon Torrent ProtonMicroarray expression datasetsExpression programsTranscriptional programsPhenotypic traitsGene modulesResponse pathwaysRNA sequencingMolecular endotypesExpression patternsGene expressionHilar lymphadenopathyOrgan involvementGenomic researchMechanistic targetExpression datasetsT helper type 1T cell immune responses
2018
Phenotypes of organ involvement in sarcoidosis
Schupp J, Freitag-Wolf S, Bargagli E, Mihailović-Vučinić V, Rottoli P, Grubanovic A, Müller A, Jochens A, Tittmann L, Schnerch J, Olivieri C, Fischer A, Jovanovic D, Filipovic S, Videnovic-Ivanovic J, Bresser P, Jonkers R, O'Reilly K, Ho L, Gaede K, Zabel P, Dubaniewicz A, Marshall B, Kieszko R, Milanowski J, Günther A, Weihrich A, Petrek M, Kolek V, Keane M, O'Beirne S, Donnelly S, Haraldsdottir S, Jorundsdottir K, Costabel U, Bonella F, Wallaert B, Grah C, Peroš-Golubičić T, Luisetti M, Kadija Z, Pabst S, Grohé C, Strausz J, Vašáková M, Sterclova M, Millar A, Homolka J, Slováková A, Kendrick Y, Crawshaw A, Wuyts W, Spencer L, Pfeifer M, Valeyre D, Poletti V, Wirtz H, Prasse A, Schreiber S, Krawczak M, Müller-Quernheim J. Phenotypes of organ involvement in sarcoidosis. European Respiratory Journal 2018, 51: 1700991. PMID: 29371378, DOI: 10.1183/13993003.00991-2017.Peer-Reviewed Original ResearchConceptsOrgan involvementIntrathoracic lymph node involvementAbdominal organ involvementLymph node involvementEuropean multicentre studySystemic granulomatous diseaseNew clinical phenotypeHitherto unknown etiologyAcute onsetExtrapulmonary involvementNode involvementSkin involvementFemale patientsMulticentre studyDisease involvementUnknown etiologyCaucasian patientsGranulomatous diseaseHomogenous cohortSarcoidosisPatientsClinical phenotypeStudy centersStandardised protocolDisease phenotype