2023
A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases
Liu W, Deng W, Chen M, Dong Z, Zhu B, Yu Z, Tang D, Sauler M, Lin C, Wain L, Cho M, Kaminski N, Zhao H. A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases. PLOS Genetics 2023, 19: e1010825. PMID: 37523391, PMCID: PMC10414598, DOI: 10.1371/journal.pgen.1010825.Peer-Reviewed Original ResearchConceptsCell typesDisease-associated tissuesWide association studyComplex diseasesCell type proportionsDisease-relevant tissuesReal GWAS dataFunctional genesTranscriptomic dataGWAS dataGenetic dataAssociation studiesNovel statistical frameworkChronic obstructive pulmonary diseaseStatistical frameworkObstructive pulmonary diseaseIdiopathic pulmonary fibrosisBreast cancer riskType proportionsBlood CD8Pulmonary diseasePulmonary fibrosisPredictive biomarkersLung tissueBreast cancerPCSK6 and Survival in Idiopathic Pulmonary Fibrosis
Oldham J, Allen R, Lorenzo-Salazar J, Molyneaux P, Ma S, Joseph C, Kim J, Guillen-Guio B, Hernández-Beeftink T, Kropski J, Huang Y, Lee C, Adegunsoye A, Pugashetti J, Linderholm A, Vo V, Strek M, Jou J, Muñoz-Barrera A, Rubio-Rodriguez L, Hubbard R, Hirani N, Whyte M, Hart S, Nicholson A, Lancaster L, Parfrey H, Rassl D, Wallace W, Valenzi E, Zhang Y, Mychaleckyj J, Stockwell A, Kaminski N, Wolters P, Molina-Molina M, Banovich N, Fahy W, Martinez F, Hall I, Tobin M, Maher T, Blackwell T, Yaspan B, Jenkins R, Flores C, Wain L, Noth I. PCSK6 and Survival in Idiopathic Pulmonary Fibrosis. American Journal Of Respiratory And Critical Care Medicine 2023, 207: 1515-1524. PMID: 36780644, PMCID: PMC10263132, DOI: 10.1164/rccm.202205-0845oc.Peer-Reviewed Original ResearchConceptsGenome-wide significanceTransplantation-free survivalIdiopathic pulmonary fibrosisStage IIPF survivalDownstream analysisPulmonary fibrosisIPF progressionWide association studyPeripheral blood gene expressionProportional hazards regressionStage II casesLimited treatment optionsStage I casesBlood gene expressionGene expressionAssociation studiesMolecular determinantsHazards regressionTreatment optionsPlasma concentrationsLung parenchymaConsistent effect directionMolecular driversProtein
2022
Integrative analyses for the identification of idiopathic pulmonary fibrosis-associated genes and shared loci with other diseases
Chen M, Zhang Y, Adams T, Ji D, Jiang W, Wain LV, Cho M, Kaminski N, Zhao H. Integrative analyses for the identification of idiopathic pulmonary fibrosis-associated genes and shared loci with other diseases. Thorax 2022, 78: 792-798. PMID: 36216496, PMCID: PMC10083187, DOI: 10.1136/thorax-2021-217703.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association analysisLocal genetic correlationsSingle-cell expression dataCandidate genesTranscription factorsIntegrative analysisGenomic regionsGenetic correlationsExpression dataTF target genesComplex genetic architectureTF binding sitesWide association studyPower of GWASSpecific DEGsGenetic architectureNew genesNovel genesCausal genesTarget genesGenetic basisEnrichment analysisAssociation studiesRegulatory roleAssociation analysis
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
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
2011
Genome Wide Association Study In Idiopathic Pulmonary Fibrosis Identifies LCLAT1 As A Novel Candidate Gene
Noth I, Zhang Y, Barber M, Gibson K, Ma S, Lindell K, Kaminski N, Hysi P, Nicolae D, Garcia J. Genome Wide Association Study In Idiopathic Pulmonary Fibrosis Identifies LCLAT1 As A Novel Candidate Gene. 2011, a2266-a2266. DOI: 10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a2266.Peer-Reviewed Original ResearchGenome-wide association studiesWide association studyNovel candidate genesCandidate genesAssociation studies