2016
Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients
Wu M, Assassi S, Salazar GA, Pedroza C, Gorlova OY, Chen WV, Charles J, Taing ML, Liao K, Wigley FM, Hummers LK, Shah AA, Hinchcliff M, Khanna D, Schiopu E, Phillips K, Furst DE, Steen V, Baron M, Hudson M, Zhou X, Pope J, Jones N, Docherty P, Khalidi NA, Robinson D, Simms RW, Silver RM, Frech TM, Fessler BJ, Fritzler MJ, Molitor JA, Segal BM, Movahedian M, Martín J, Varga J, Mayes MD. Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients. Arthritis Research & Therapy 2016, 18: 20. PMID: 26792595, PMCID: PMC4719560, DOI: 10.1186/s13075-016-0923-3.Peer-Reviewed Original ResearchConceptsIdiopathic interstitial pneumoniaInterstitial lung diseaseInterstitial pneumoniaValidation cohortSeverity of ILDGenetic susceptibility lociSSc-related interstitial lung diseaseSingle nucleotide polymorphismsCase-control studyGenome-wide association studiesBackgroundSystemic sclerosisSSc-ILDLung involvementSSc patientsSystemic sclerosisVital capacityLung diseaseCaucasian patientsHealthy controlsDiscovery cohortSusceptibility lociPositive subsetControl studyReplication cohortCohort
2012
The Pulmonary Fibrosis-Associated MUC5B Promoter Polymorphism Does Not Influence the Development of Interstitial Pneumonia in Systemic Sclerosis
Peljto AL, Steele MP, Fingerlin TE, Hinchcliff ME, Murphy E, Podlusky S, Carns M, Schwarz M, Varga J, Schwartz DA. The Pulmonary Fibrosis-Associated MUC5B Promoter Polymorphism Does Not Influence the Development of Interstitial Pneumonia in Systemic Sclerosis. CHEST Journal 2012, 142: 1584-1588. PMID: 22576636, PMCID: PMC3515031, DOI: 10.1378/chest.12-0110.Peer-Reviewed Original ResearchConceptsInterstitial pneumoniaSystemic sclerosisPromoter polymorphismDistinct genetic risk factorsMUC5B Promoter PolymorphismUnaffected control subjectsGenetic risk factorsReticular infiltratesLung involvementControl subjectsRisk factorsIP diagnosisSporadic formsSecondary analysisFVCPneumoniaSclerosisCommon variantsConservative definitionPhenotypic heterogeneitySubjectsMinor allele frequencyPolymorphismAllele frequenciesAssociation