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
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 ResearchConceptsSystemic 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