2022
Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study
Allen RJ, Oldham JM, Jenkins DA, Leavy OC, Guillen-Guio B, Melbourne CA, Ma SF, Jou J, Kim JS, Cooperative C, Fahy WA, Oballa E, Hubbard RB, Navaratnam V, Braybrooke R, Saini G, Roach KM, Tobin MD, Hirani N, Whyte MKB, Kaminski N, Zhang Y, Martinez FJ, Linderholm AL, Adegunsoye A, Strek ME, Maher TM, Molyneaux PL, Flores C, Noth I, Jenkins R, Wain LV. Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study. The Lancet Respiratory Medicine 2022, 11: 65-73. PMID: 35985358, PMCID: PMC10077113, DOI: 10.1016/s2213-2600(22)00251-x.Peer-Reviewed Original ResearchConceptsIdiopathic pulmonary fibrosisPulmonary fibrosisLung capacityAmerican Thoracic Society/European Respiratory Society guidelinesDiagnosis of IPFEuropean Respiratory Society guidelinesPotential novel therapeutic approachHealth-National HeartLongitudinal lung functionRespiratory Society guidelinesGenetic variantsNovel therapeutic approachesIncurable lung diseaseMedical Research CouncilProgressive scarringFVC declineLung functionVital capacityBlood InstituteSociety guidelinesLung diseaseNational HeartDisease progressionTherapeutic approachesSignificant association
2021
S65 Genome-wide association study of survival times after diagnosis of idiopathic pulmonary fibrosis
Allen R, Oldham J, Lorenzo-Salazar J, Molyneaux P, Ma S, Stockwell A, Joseph C, Kim J, Guillen-Guio B, Hernandez-Beeftink T, Kropski J, Huang Y, Lee C, Adegunsoye A, Pugashetti J, Linderholm A, Vo V, Strek M, Hubbard R, Hirani N, Whyte M, Hart S, Nicholson A, Parfrey H, Rassl D, Wallace W, Fahy W, Valenzi E, Zhang Y, Kaminski N, Wolters P, Molina-Molina M, Martinez F, Hall I, Tobin, Maher T, Blackwell T, Yaspan B, Jenkins R, Flores C, Wain L, Noth I. S65 Genome-wide association study of survival times after diagnosis of idiopathic pulmonary fibrosis. Thorax 2021, 76: a43-a43. DOI: 10.1136/thorax-2021-btsabstracts.71.Peer-Reviewed Original ResearchGenome-wide analysisIdiopathic pulmonary fibrosisAssociation studiesGenome-wide association studiesGenetic variantsImportant biological processesWide association studyTwo-stage GWASIPF casesIPF survivalSurvival timeDisease progressionDNA regionsFirst GWASLikely genePulmonary fibrosisGene expressionBiological processesDiagnosis of IPFGenetic principal componentsProgression of IPFDisease riskStage 1Genetic determinantsCox proportional hazards model
2015
Update in Diffuse Parenchymal Lung Disease 2013
Rosas IO, Kaminski N. Update in Diffuse Parenchymal Lung Disease 2013. American Journal Of Respiratory And Critical Care Medicine 2015, 191: 270-274. PMID: 25635490, PMCID: PMC4351573, DOI: 10.1164/rccm.201405-0856up.Peer-Reviewed Original ResearchMeSH KeywordsAnti-Inflammatory Agents, Non-SteroidalClinical Trials, Phase III as TopicDisease ProgressionDrug ApprovalEnzyme InhibitorsGenomicsHumansIdiopathic Pulmonary FibrosisIndolesLung Diseases, InterstitialPolymorphism, GeneticPyridonesTreatment OutcomeUnited StatesUnited States Food and Drug AdministrationConceptsMajority of patientsDistinct clinical presentationsSignificant clinical implicationsClinical presentationPulmonary fibrosis researchDisease progressionClinical implicationsGenetic biomarkersPatientsFibrosis researchGenetic variantsBiological mechanismsIPFNew biological mechanismsNintedanibPirfenidonePeriodHistoric approval
2014
Secreted Phosphoprotein 1 Is a Determinant of Lung Function Development in Mice
Ganguly K, Martin TM, Concel VJ, Upadhyay S, Bein K, Brant KA, George L, Mitra A, Thimraj TA, Fabisiak JP, Vuga LJ, Fattman C, Kaminski N, Schulz H, Leikauf GD. Secreted Phosphoprotein 1 Is a Determinant of Lung Function Development in Mice. American Journal Of Respiratory Cell And Molecular Biology 2014, 51: 637-651. PMID: 24816281, PMCID: PMC4224082, DOI: 10.1165/rcmb.2013-0471oc.Peer-Reviewed Original ResearchMeSH KeywordsAlveolar Epithelial CellsAnimalsAnimals, NewbornCore Binding Factor Alpha 1 SubunitFemaleGene Expression Regulation, DevelopmentalLung ComplianceMaleMice, Inbred C3HMice, Inbred C57BLMice, KnockoutOligonucleotide Array Sequence AnalysisOsteopontinPromoter Regions, GeneticPulmonary AlveoliPulmonary Disease, Chronic ObstructiveReceptor, Notch1ConceptsMicroarray analysisPhosphoprotein 1Quantitative trait lociLung functionQuantitative RT-PCR analysisDNA-protein bindingRunt-related transcription factor 2Transcription factor 2Developmental transcriptsLung developmentTrait lociNumerous genesSecreted Phosphoprotein 1Notch1 transcriptsRT-PCR analysisInsulin-like growth factor-1C3H/HeJ miceDiminished lung functionLung function developmentSPP1 promoterSPP1Growth factor-1Mean airspace chord lengthC3H/HeJGenetic variants
2013
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study
Noth I, Zhang Y, Ma SF, Flores C, Barber M, Huang Y, Broderick SM, Wade MS, Hysi P, Scuirba J, Richards TJ, Juan-Guardela BM, Vij R, Han MK, Martinez FJ, Kossen K, Seiwert SD, Christie JD, Nicolae D, Kaminski N, Garcia J. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. The Lancet Respiratory Medicine 2013, 1: 309-317. PMID: 24429156, PMCID: PMC3894577, DOI: 10.1016/s2213-2600(13)70045-6.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significanceSingle nucleotide polymorphismsAssociation studiesThree-stage genome-wide association studyDiscovery Genome-Wide Association StudiesGene expression profiling dataGenetic variantsWide association studyRare genetic variantsAdditional common variantsDNA samplesMinor alleleCommon single nucleotide polymorphismsNovel variantsPulmonary Fibrosis FoundationDatabase of GenotypesGenetic lociTollip expressionNucleotide polymorphismsProfiling dataSNP genotypesCommon variantsIPF susceptibilityCommon alleles