2012
Genome-wide association study of obsessive-compulsive disorder
Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund C, Rauch S, Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe H, Lennertz L, Wagner M, Bellodi L, Cavallini M, Richter M, Cook E, Kennedy J, Rosenberg D, Stein D, Hemmings S, Lochner C, Azzam A, Chavira D, Fournier E, Garrido H, Sheppard B, Umaña P, Murphy D, Wendland J, Veenstra-VanderWeele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg H, Walitza S, Egberts K, Renner T, Miguel E, Cappi C, Hounie A, Conceição do Rosário M, Sampaio A, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato C, Pato M, Voyiaziakis E, Heutink P, Cath D, Posthuma D, Smit J, Samuels J, Bienvenu O, Cullen B, Fyer A, Grados M, Greenberg B, McCracken J, Riddle M, Wang Y, Coric V, Leckman J, Bloch M, Pittenger C, Eapen V, Black D, Ophoff R, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs J, Cookson M, Singleton A, Hardy J, Crenshaw A, Parkin M, Mirel D, Conti D, Purcell S, Nestadt G, Hanna G, Jenike M, Knowles J, Cox N, Pauls D. Genome-wide association study of obsessive-compulsive disorder. Molecular Psychiatry 2012, 18: 788-798. PMID: 22889921, PMCID: PMC4218751, DOI: 10.1038/mp.2012.85.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociSingle nucleotide polymorphismsGenome-wide significant levelGenome-wide significance thresholdX-chromosome single nucleotide polymorphismsGenome-wide association studiesTrio-based analysisQuantitative trait lociAncestry-matched controlsComplex genetic etiologyTrait lociCase-control association analysisMethylation QTLsGenetic variationGene expressionAssociation studiesTop signalsAssociation analysisBroader roleSignificant enrichmentSNP microarraysCase-control sampleNucleotide polymorphismsGenetic etiologySignificance threshold
2006
Association of polymorphisms within the promoter region of the tumor necrosis factor-α with clinical outcomes of rheumatic fever
Ramasawmy R, Faé K, Spina G, Victora G, Tanaka A, Palácios S, Hounie A, Miguel E, Oshiro S, Goldberg A, Kalil J, Guilherme L. Association of polymorphisms within the promoter region of the tumor necrosis factor-α with clinical outcomes of rheumatic fever. Molecular Immunology 2006, 44: 1873-1878. PMID: 17079017, DOI: 10.1016/j.molimm.2006.10.001.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAortic DiseasesAutoimmune DiseasesChildChoreaCohort StudiesFemaleGenetic Predisposition to DiseaseHumansMaleMyocarditisPolymorphism, Single NucleotidePredictive Value of TestsQuantitative Trait LociRheumatic Heart DiseaseStreptococcal InfectionsStreptococcus pyogenesTumor Necrosis Factor-alphaConceptsRheumatic feverRF patientsClinical outcomesHealthy controlsTNFA geneMinor alleleRF/RHDAortic valve lesionsRecognition of autoantigensStratification of patientsTumor necrosis factorAssociation of polymorphismsMild carditisValve lesionsAdaptive armsSydenham's choreaAutoimmune diseasesHeart diseaseInflammatory diseasesNecrosis factorBorderline associationG-308APatientsImmune systemClinical phenotype