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 ResearchMeSH KeywordsAdultAgedCase-Control StudiesCohort StudiesFemaleGenetic LociGenetic Predisposition to DiseaseHumansIdiopathic Interstitial PneumoniasMaleMiddle AgedRisk FactorsScleroderma, SystemicWhite PeopleConceptsIdiopathic 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
2014
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis
Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV, Assassi S, Ying J, Tan FK, Arnett FC, Reveille JD, Guerra S, Teruel M, Carmona FD, Gregersen PK, Lee AT, López-Isac E, Ochoa E, Carreira P, Simeón CP, Castellví I, González-Gay MÁ, Group T, Ortego-Centeno N, Ríos R, Callejas J, Navarrete N, Portales R, Camps M, Fernández-Nebro A, González-Escribano M, Sánchez-Román J, García-Hernández F, Castillo M, Aguirre M, Gómez-Gracia I, Fernández-Gutiérrez B, Rodríguez-Rodríguez L, Vicente E, Andreu J, de Castro M, de la Peña P, López-Longo F, Martínez L, Fonollosa V, Espinosa G, Tolosa C, Pros A, Carballeira M, Narváez F, Rivas M, Santamaría V, Díaz B, Trapiella L, del Carmen Freire M, Sousa A, Egurbide M, Mateo P, Sáez-Comet L, Díaz F, Hernández V, Beltrán E, Román-Ivorra J, Grau E, Sancho J, García F, Oreiro N, Sueiro L, Zhernakova A, Padyukov L, Alarcón-Riquelme M, Wijmenga C, Brown M, Beretta L, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler J, Voskuyl A, Schuerwegh A, Hesselstrand R, Nordin A, Airó P, Lunardi C, Shiels P, van Laar J, Herrick A, Worthington J, Denton C, Wigley F, Hummers L, Varga J, Hinchcliff M, Baron M, Hudson M, Pope J, Furst D, Khanna D, Phillips K, Schiopu E, Segal B, Molitor J, Silver R, Steen V, Simms R, Lafyatis R, Fessler B, Frech T, AlKassab F, Docherty P, Kaminska E, Khalidi N, Jones H, Markland J, Robinson D, Broen J, Radstake T, Fonseca C, Koeleman B, Martin J. Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis. American Journal Of Human Genetics 2014, 94: 47-61. PMID: 24387989, PMCID: PMC3882906, DOI: 10.1016/j.ajhg.2013.12.002.Peer-Reviewed Original ResearchAllelesAutophagy-Related Protein 5Carrier ProteinsCase-Control StudiesChromosomes, Human, Pair 11Chromosomes, Human, Pair 3DEAD-box RNA HelicasesEndodeoxyribonucleasesFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHLA AntigensHumansInterleukin-12 Subunit p35Linkage DisequilibriumLogistic ModelsMaleMicrochip Analytical ProceduresMicrotubule-Associated ProteinsPolymorphism, Single NucleotideProto-Oncogene ProteinsRisk FactorsScleroderma, SystemicWhite People
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
2011
Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, Diaz-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't Slot R, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, González-Escribano MF, Airo P, van Laar J, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels PG, Westhovens R, Kreuter A, de Baere E, Witte T, Padyukov L, Nordin A, Scorza R, Lunardi C, Lie BA, Hoffmann-Vold AM, Palm Ø, García de la Peña P, Carreira P, , Varga J, Hinchcliff M, Lee AT, Gourh P, Amos CI, Wigley FM, Hummers LK, Hummers J, Nelson J, Riemekasten G, Herrick A, Beretta L, Fonseca C, Denton C, Gregersen P, Agarwal S, Assassi S, Tan F, Arnett F, Radstake T, Mayes M, Martin J. Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy. PLOS Genetics 2011, 7: e1002178. PMID: 21779181, PMCID: PMC3136437, DOI: 10.1371/journal.pgen.1002178.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAutoantibodiesFemaleGenetic LociGenetic MarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyHLA AntigensHumansMaleMiddle AgedPhenotypePolymorphism, Single NucleotideScleroderma, SystemicConceptsSystemic sclerosisSSc patientsHLA regionDiffuse cutaneous involvementHLA-DQB1 lociNon-HLA genesCutaneous involvementHealthy controlsIndependent associationHLA-DQB1Antibody subgroupsIndependent cohortGenome-wide association studiesClinical phenotypeGenetic componentIRF8 geneLcSScSclerosisPatientsSubgroupsCohortSuggestive associationAssociationNovel genetic markersGWAS level
2010
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee M, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie B, Hoffmann-Vold A, Carreira P, Varga J, Hinchcliff M, Gregersen P, Lee A, Ying J, Han Y, Weng S, Amos C, Wigley F, Hummers L, Nelson J, Agarwal S, Assassi S, Gourh P, Tan F, Koeleman B, Arnett F, Martin J, Mayes M. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nature Genetics 2010, 42: 426-429. PMID: 20383147, PMCID: PMC2861917, DOI: 10.1038/ng.565.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesCD3 ComplexCohort StudiesEuropeFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedOdds RatioRisk FactorsScleroderma, Systemic