2021
S63 Genome-wide sex-by-SNP interaction analysis of susceptibility to idiopathic pulmonary fibrosis
Leavy O, Allen R, Oldham J, Guillen-Guio B, Stockwell A, Braybrooke R, Hubbard R, Ma S, Fingerlin T, Kaminski N, Zhang Y, Schwartz D, Yaspan B, Maher T, Molyneaux P, Flores C, Noth I, Jenkins R, Wain L. S63 Genome-wide sex-by-SNP interaction analysis of susceptibility to idiopathic pulmonary fibrosis. Thorax 2021, 76: a42-a42. DOI: 10.1136/thorax-2021-btsabstracts.69.Peer-Reviewed Original ResearchGenome-wide association studiesSNP interaction analysisIPF susceptibilityGenetic determinantsIndependent variantsIPF riskDifferent biological pathwaysGenetic lociSuggestive statistical significancePromoter regionBiological pathwaysAssociation studiesCommon genetic risk factorCase-control data setsGenetic componentIndependent datasetsInteraction analysisSignificant variantsSignificance thresholdBiological mechanismsSNP interactionsGenetic risk factorsEuropean descentFurther insightVariants
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
2015
eQTL of bronchial epithelial cells and bronchial alveolar lavage deciphers GWAS‐identified asthma genes
Li X, Hastie AT, Hawkins GA, Moore WC, Ampleford EJ, Milosevic J, Li H, Busse WW, Erzurum SC, Kaminski N, Wenzel SE, Meyers DA, Bleecker ER. eQTL of bronchial epithelial cells and bronchial alveolar lavage deciphers GWAS‐identified asthma genes. Allergy 2015, 70: 1309-1318. PMID: 26119467, PMCID: PMC4583797, DOI: 10.1111/all.12683.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAsthmaBronchoalveolar Lavage FluidCase-Control StudiesChromosome MappingEpithelial CellsFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansImmunoglobulin EMaleOrgan SpecificityPolymorphism, Single NucleotideQuantitative Trait LociRespiratory Function TestsRespiratory MucosaConceptsExpression quantitative trait lociGenome-wide association studiesSingle nucleotide polymorphismsAsthma genesQuantitative trait lociGenes/single-nucleotide polymorphismsCis-eQTL analysisFurther functional studiesDisease-relevant tissuesDecreased expressionTrait lociCausal genesTranscription analysisGene expressionPromoter regionAsthma-related genesAssociation studiesBronchial epithelial cellsProtein secretionGenesFunctional studiesNucleotide polymorphismsSpecific regulationExpression levelsExpression of IL33