2023
Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects.
Casanova N, Camp S, Gonzalez-Garay M, Batai K, Garman L, Montgomery C, Ellis N, Kittles R, Bime C, Hsu A, Holland S, Lussier Y, Karnes J, Sweiss N, Maier L, Koth L, Moller D, Kaminski N, Garcia J. Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects. European Journal Of Respiratory Medicine 2023, 5: 359-371. PMID: 38390497, PMCID: PMC10883688, DOI: 10.31488/ejrm.137.Peer-Reviewed Original ResearchExpression quantitative trait lociGenome-wide association studiesEQTL SNPsGenome-wide association study cohortsInnate immunityQuantitative trait lociAllograft rejection pathwayGWAS SNPsIndependent sarcoidosis cohortTrait lociAssociation studiesGenetic basisComplicated sarcoidosisSNPsHLA regionAfrican AmericansSarcoidosis riskSeverity of sarcoidosisGranulomatous inflammatory diseaseMHC class IISystemic granulomatous inflammatory diseaseEuropean AmericansSarcoidosis cohortVariants/genesPool
2019
Plasma mitochondrial DNA is associated with extrapulmonary sarcoidosis
Ryu C, Brandsdorfer C, Adams T, Hu B, Kelleher DW, Yaggi M, Manning EP, Walia A, Reeves B, Pan H, Winkler J, Minasyan M, Dela Cruz CS, Kaminski N, Gulati M, Herzog EL. Plasma mitochondrial DNA is associated with extrapulmonary sarcoidosis. European Respiratory Journal 2019, 54: 1801762. PMID: 31273041, PMCID: PMC8088542, DOI: 10.1183/13993003.01762-2018.Peer-Reviewed Original ResearchConceptsExtrapulmonary diseaseMitochondrial DNAExtracellular mtDNABAL fluidAlpha-1 antitrypsin deficiencyPlasma mitochondrial DNAPlasma of patientsAfrican AmericansExtrapulmonary sarcoidosisSarcoidosis cohortSarcoidosis subjectsScadding stageAfrican American descentClinical featuresClinical findingsGranulomatous diseaseHealthy controlsAntitrypsin deficiencyGenomic researchHigher oddsSarcoidosisAggressive phenotypeMechanistic basisDiseaseTherapeutic insights