2022
A genomic meta-analysis of clinical variables and their association with intrinsic molecular subsets in systemic sclerosis
Franks JM, Toledo DM, Martyanov V, Wang Y, Huang S, Wood TA, Spino C, Chung L, Denton C, Derrett-Smith E, Gordon JK, Spiera R, Domsic R, Hinchcliff M, Khanna D, Whitfield ML. A genomic meta-analysis of clinical variables and their association with intrinsic molecular subsets in systemic sclerosis. Rheumatology 2022, 62: 19-28. PMID: 35751592, PMCID: PMC9788818, DOI: 10.1093/rheumatology/keac344.Peer-Reviewed Original ResearchConceptsMolecular subsetsIntrinsic subsetInflammatory subsetBaseline demographicsSSc patientsWhite/Caucasian patientsBaseline clinical demographicsAverage disease durationRodnan skin scoreAfrican American/BlackASSET trialUnique gene expression signatureDisease durationGene expression signaturesClinical demographicsParticipant seraSkin scoreSystemic sclerosisValidation cohortClinical variablesCaucasian patientsSpecific therapyAmerican/BlackSkin biopsiesDisease pathogenesis
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
2015
A candidate gene study reveals association between a variant of the Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) gene and systemic sclerosis
Marangoni RG, Korman BD, Allanore Y, Dieude P, Armstrong LL, Rzhetskaya M, Hinchcliff M, Carns M, Podlusky S, Shah SJ, Ruiz B, Hachulla E, Tiev K, Cracowski JL, Varga J, Hayes MG. A candidate gene study reveals association between a variant of the Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) gene and systemic sclerosis. Arthritis Research & Therapy 2015, 17: 128. PMID: 25986483, PMCID: PMC4437446, DOI: 10.1186/s13075-015-0641-2.Peer-Reviewed Original ResearchConceptsSystemic sclerosisDiscovery cohortSingle nucleotide polymorphismsPathogenesis of SScNuclear receptor peroxisome proliferator-activated receptor gammaPeroxisome proliferator-activated receptor gammaPotent anti-fibrotic effectsPulmonary arterial hypertensionProliferator-activated receptor gammaAnti-fibrotic effectsRole of PPARGene single nucleotide polymorphismsReceptor gamma geneSSc cohortArterial hypertensionSSc patientsClinical parametersValidation cohortClinical associationsEuropean cohortReceptor gammaPPARG variantsDisease severityIntronic single nucleotide polymorphismC allele