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
2020
Genetic determinants of ammonia-induced acute lung injury in mice
Bein K, Ganguly K, Martin TM, Concel VJ, Brant KA, Di YPP, Upadhyay S, Fabisiak JP, Vuga LJ, Kaminski N, Kostem E, Eskin E, Prows DR, Jang AS, Leikauf GD. Genetic determinants of ammonia-induced acute lung injury in mice. American Journal Of Physiology - Lung Cellular And Molecular Physiology 2020, 320: l41-l62. PMID: 33050709, PMCID: PMC7847062, DOI: 10.1152/ajplung.00276.2020.Peer-Reviewed Original ResearchConceptsSNP associationsWide association mappingGenetic determinantsSignificant SNP associationsAcute lung injuryIntegrative functional approachAssociation mappingMolecular functionsTranscriptomic analysisCandidate genesFunctional domainsNonsynonymous SNPsPromoter regionLung injuryDiverse panelGenesSNPsMouse strainsPathophysiological roleAATFInjuryProteinLAMA3ExpressionAssembly