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