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
2022
Occupational and environmental exposures in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study
Ryan SM, Mroz MM, Herzog EL, Ryu C, Fingerlin TE, Maier LA, Gulati M. Occupational and environmental exposures in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study. Respiratory Medicine 2022, 200: 106923. PMID: 35932543, DOI: 10.1016/j.rmed.2022.106923.Peer-Reviewed Original ResearchConceptsAlpha-1 antitrypsin deficiencyCardiac sarcoidosisSarcoidosis StudyAntitrypsin deficiencyRadiation exposureNon-cardiac sarcoidosisNon-chronic diseasesMultiple comparisonsEnvironmental exposure dataExtrapulmonary diseasePulmonary involvementGranulomatous disorderSarcoidosis phenotypesRisk factorsSpecific disease phenotypesStage 0Number of exposuresSarcoidosisExposure assessment toolsSusceptible individualsSpecific exposuresDiseaseEnvironmental exposuresExposure dataIndividual exposure
2020
Macrophage Migration Inhibitory Factor is not Associated with Sarcoidosis Susceptibility or Severity in Whites or Blacks
Odio CD, Miller EJ, Sauler M, Leng L, Piecychna M, Drake WP, Bucala R. Macrophage Migration Inhibitory Factor is not Associated with Sarcoidosis Susceptibility or Severity in Whites or Blacks. Sarcoidosis, Vasculitis, And Diffuse Lung Diseases 2020, 37: e2020003. PMID: 33264374, PMCID: PMC7690059, DOI: 10.36141/svdld.v37i3.9273.Peer-Reviewed Original ResearchMacrophage migration inhibitory factorMigration inhibitory factorHealthy controlsMacrophage migration inhibitory factor (MIF) promoter polymorphismsSarcoidosis severityInhibitory factorAlpha-1 antitrypsin deficiencyLarge North American cohortHigh expressionSarcoidosis susceptibilityNorth American cohortPulmonary sarcoidosisSarcoidosis patientsAutoimmune diseasesInflammatory cytokinesSarcoidosis phenotypesSarcoidosis StudyAntitrypsin deficiencyPromoter polymorphismAmerican cohortSarcoidosisSmall sample sizeSeverityC SNPPatients
2015
Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) Study. Sarcoidosis Protocol
Moller DR, Koth LL, Maier LA, Morris A, Drake W, Rossman M, Leader JK, Collman RG, Hamzeh N, Sweiss NJ, Zhang Y, O’Neal S, Senior RM, Becich M, Hochheiser HS, Kaminski N, Wisniewski SR, Gibson KF, Group* F. Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) Study. Sarcoidosis Protocol. Annals Of The American Thoracic Society 2015, 12: 1561-1571. PMID: 26193069, PMCID: PMC4627423, DOI: 10.1513/annalsats.201503-172ot.Peer-Reviewed Original ResearchConceptsAlpha-1 antitrypsin deficiencyClinical courseLung microbiomeAntitrypsin deficiencyClinical heterogeneityPathobiology of sarcoidosisTremendous clinical heterogeneityObservational cohort studyPulmonary function testsSystemic inflammatory responsePeripheral blood changesDiagnosis of sarcoidosisSelf-administered questionnaireCohort studyBaseline visitBronchoalveolar lavageFunction testsGranulomatous inflammationSystemic diseaseSarcoidosis phenotypesUrine testingClinical bronchoscopyInflammatory responseSarcoidosis StudyPrognostic biomarker
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