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
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