2021
Polyenvironmental and polygenic risk scores and the emergence of psychotic experiences in adolescents
Navarro G, Fonseca L, Talarico F, Spíndola L, Santoro M, Ota V, Cogo-Moreira H, Mari J, Rohde L, Miguel E, Bressan R, Pan P, Gadelha A, Belangero S. Polyenvironmental and polygenic risk scores and the emergence of psychotic experiences in adolescents. Journal Of Psychiatric Research 2021, 142: 384-388. PMID: 34450553, DOI: 10.1016/j.jpsychires.2021.07.057.Peer-Reviewed Original ResearchAdolescentGenetic Predisposition to DiseaseHallucinationsHumansMultifactorial InheritancePsychotic DisordersRisk FactorsSchizophrenia
2019
Genetic risk for Alzheimer's disease and functional brain connectivity in children and adolescents
Axelrud L, Sato J, Santoro M, Talarico F, Pine D, Rohde L, Zugman A, Junior E, Bressan R, Grassi-Oliveira R, Pan P, Hoffmann M, Simioni A, Guinjoan S, Hakonarson H, Brietzke E, Gadelha A, Pellegrino da Silva R, Hoexter M, Miguel E, Belangero S, Salum G. Genetic risk for Alzheimer's disease and functional brain connectivity in children and adolescents. Neurobiology Of Aging 2019, 82: 10-17. PMID: 31376729, PMCID: PMC7658444, DOI: 10.1016/j.neurobiolaging.2019.06.011.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlzheimer DiseaseBrainBrazilChildCross-Sectional StudiesFemaleFunctional NeuroimagingGenetic Predisposition to DiseaseHumansMaleNerve NetPolymorphism, Single NucleotideConceptsAlzheimer's diseaseAD-PRSBrain connectivityGenetic riskRight superior temporal gyrusFunctional brain connectivityMagnetic resonance imagingInhibitory controlSuperior temporal gyrusTau pathologyAD developmentPolygenic risk scoresRisk scoreRight precuneusResonance imagingTau proteinTemporal gyrusDiseaseBrain connectionsEarly lifePathology networkFunctional networksRiskPorto AlegreMemory performance
2017
Sex differences in DNA methylation of the cord blood are related to sex-bias psychiatric diseases
Maschietto M, Bastos L, Tahira A, Bastos E, Euclydes V, Brentani A, Fink G, de Baumont A, Felipe-Silva A, Francisco R, Gouveia G, Grisi S, Escobar A, Moreira-Filho C, Polanczyk G, Miguel E, Brentani H. Sex differences in DNA methylation of the cord blood are related to sex-bias psychiatric diseases. Scientific Reports 2017, 7: 44547. PMID: 28303968, PMCID: PMC5355991, DOI: 10.1038/srep44547.Peer-Reviewed Original ResearchMeSH KeywordsAdultCpG IslandsDNA MethylationFemaleFetal BloodGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInfant, NewbornMaleMental DisordersSchizophreniaSex CharacteristicsSexismConceptsDNA methylationCpG sitesSex-specific DNA methylationCord bloodIllumina HumanMethylation450 BeadChipPsychiatric outcomesMethylation profilesSex differencesHumanMethylation450 BeadChipBrains of boysMethylationXY probesPsychiatric disordersPsychiatric diseasesBrain tissueEnvironmental factorsBrain developmentNeurodevelopmental disordersPrimary driverGestationBloodPotential connectionBeadChipDisordersGenes
2016
An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder
de Araújo Lima L, Feio-dos-Santos A, Belangero S, Gadelha A, Bressan R, Salum G, Pan P, Moriyama T, Graeff-Martins A, Tamanaha A, Alvarenga P, Krieger F, Fleitlich-Bilyk B, Jackowski A, Brietzke E, Sato J, Polanczyk G, Mari J, Manfro G, do Rosário M, Miguel E, Puga R, Tahira A, Souza V, Chile T, Gouveia G, Simões S, Chang X, Pellegrino R, Tian L, Glessner J, Hashimoto R, Rohde L, Sleiman P, Hakonarson H, Brentani H. An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Scientific Reports 2016, 6: 22851. PMID: 26947246, PMCID: PMC4780010, DOI: 10.1038/srep22851.Peer-Reviewed Original ResearchConceptsCopy number variantsProtein-protein interaction networkDe novo CNVsSingle nucleotide variantsGenetic architectureNew genesInteraction networksOnly geneFunctional analysisCNV studiesNovo CNVsGenesCell adhesionGenetic variantsExome dataIntegrative approachPathwayGenetic susceptibilityVariantsGWASTriosRespective rolesSilicoCNVsSNVs
2015
COMT and MAO-A Polymorphisms and Obsessive-Compulsive Disorder: A Family-Based Association Study
Sampaio A, Hounie A, Petribú K, Cappi C, Morais I, Vallada H, do Rosário M, Stewart S, Fargeness J, Mathews C, Arnold P, Hanna G, Richter M, Kennedy J, Fontenelle L, de Bragança Pereira C, Pauls D, Miguel E. COMT and MAO-A Polymorphisms and Obsessive-Compulsive Disorder: A Family-Based Association Study. PLOS ONE 2015, 10: e0119592. PMID: 25793616, PMCID: PMC4368617, DOI: 10.1371/journal.pone.0119592.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAllelesCatechol O-MethyltransferaseChildEpistasis, GeneticFamilyFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLinkage DisequilibriumMaleMonoamine OxidaseObsessive-Compulsive DisorderPhenotypePolymorphism, Single NucleotideYoung AdultConceptsAssociation studiesBroad spectrum phenotypesTransmission disequilibrium analysisSingle geneSingle nucleotide polymorphismsGenetic association studiesGene-gene interactionsGenesClassical case-control designDisequilibrium analysisGenetic componentAssociation investigationsEpistatic influencesPhenotypePolymorphismSpectrum phenotypeEpistasisOCD susceptibilityAlternative strategyRoleNarrow phenotype
2014
An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
Cappi C, Hounie A, Mariani D, Diniz J, Silva A, Reis V, Busso A, Silva A, Fidalgo F, Rogatto S, Miguel E, Krepischi A, Brentani H. An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder. PLOS ONE 2014, 9: e110198. PMID: 25303678, PMCID: PMC4193873, DOI: 10.1371/journal.pone.0110198.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge of OnsetCase-Control StudiesChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 15Comparative Genomic HybridizationDNA Copy Number VariationsFetal ProteinsForminsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMicrofilament ProteinsNuclear ProteinsObsessive-Compulsive DisorderConceptsObsessive-compulsive disorderOnset obsessive-compulsive disorderEarly-onset obsessive-compulsive disorderAttention deficit hyperactivity disorderArray-based comparative genomic hybridizationNeurodevelopmental psychiatric disordersDeficit hyperactivity disorderGlutamatergic involvementMale patientsGlutamatergic systemPsychiatric disordersHealthy individualsPatientsHyperactivity disorderGenetic riskComparative genomic hybridizationDisordersSmall microdeletionsChromosome 15q13.3Present studyGenomic hybridizationMicrodeletionCohortCopy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study
McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study. Journal Of The American Academy Of Child & Adolescent Psychiatry 2014, 53: 910-919. PMID: 25062598, PMCID: PMC4218748, DOI: 10.1016/j.jaac.2014.04.022.Peer-Reviewed Original Research
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 thresholdAssociation study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder
Cappi C, Muniz R, Sampaio A, Cordeiro Q, Brentani H, Palácios S, Marques A, Vallada H, Miguel E, Guilherme L, Hounie A. Association study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder. Arquivos De Neuro-Psiquiatria 2012, 70: 87-90. PMID: 22311210, PMCID: PMC4479271, DOI: 10.1590/s0004-282x2012000200003.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesGene FrequencyGenetic MarkersGenetic Predisposition to DiseaseHumansObsessive-Compulsive DisorderPolymorphism, GeneticTumor Necrosis Factor-alphaConceptsObsessive-compulsive disorderImmune systemTumor necrosis factor alpha genePrevalent psychiatric disordersInflammatory cytokine genesNecrosis factor alpha geneTNF-alpha geneRs361525 polymorphismUnknown etiologyHealthy controlsPsychiatric disordersCytokine genesA alleleFunctional polymorphismsOCD patientsOCD subjectsDisordersPathogenesisPLINK softwarePresent studyPolymorphismAdditional evidenceAssociation studiesPatientsEtiology
2009
Association study between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder
Cordeiro Q, Cappi C, Sampaio A, Palácios S, de Bragança Pereira C, Shavitt R, Miguel E, Guilherme L, Hounie A. Association study between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder. Brazilian Journal Of Psychiatry 2009, 31: 131-135. PMID: 19578685, DOI: 10.1590/s1516-44462009000200009.Peer-Reviewed Original Research
2008
TNF-alpha polymorphisms are associated with obsessive-compulsive disorder
Hounie A, Cappi C, Cordeiro Q, Sampaio A, Moraes I, do Rosário M, Palácios S, Goldberg A, Vallada H, Machado-Lima A, Nakano E, Kalil J, Pauls D, Pereira C, Guilherme L, Miguel E. TNF-alpha polymorphisms are associated with obsessive-compulsive disorder. Neuroscience Letters 2008, 442: 86-90. PMID: 18639610, DOI: 10.1016/j.neulet.2008.07.022.Peer-Reviewed Original Research
2007
Association analysis between a VNTR intron 8 polymorphism of the dopamine transporter gene (SLC6A3) and obsessive- compulsive disorder in a Brazilian sample
Miguita K, Cordeiro Q, Siqueira-Roberto J, Shavitt R, Castillo J, Castillo A, Miguel E, Vallada H. Association analysis between a VNTR intron 8 polymorphism of the dopamine transporter gene (SLC6A3) and obsessive- compulsive disorder in a Brazilian sample. Arquivos De Neuro-Psiquiatria 2007, 65: 936-941. PMID: 18094849, DOI: 10.1590/s0004-282x2007000600002.Peer-Reviewed Original Research
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 phenotypeAssociation study between the 1287 A/G exonic polymorphism of the norepinephrine transporter (NET) gene and obsessive-compulsive disorder in a Brazilian sample
Miguita K, Cordeiro Q, Shavitt R, Miguel E, Vallada H. Association study between the 1287 A/G exonic polymorphism of the norepinephrine transporter (NET) gene and obsessive-compulsive disorder in a Brazilian sample. Brazilian Journal Of Psychiatry 2006, 28: 158-159. PMID: 16810402, DOI: 10.1590/s1516-44462006000200017.Peer-Reviewed Original Research
2004
Obsessive-compulsive disorder phenotypes: implications for genetic studies
Miguel EC, Leckman JF, Rauch S, do Rosario-Campos MC, Hounie AG, Mercadante MT, Chacon P, Pauls DL. Obsessive-compulsive disorder phenotypes: implications for genetic studies. Molecular Psychiatry 2004, 10: 258-275. PMID: 15611786, DOI: 10.1038/sj.mp.4001617.Peer-Reviewed Original ResearchEpigenesis, GeneticGenetic HeterogeneityGenetic Predisposition to DiseaseHumansObsessive-Compulsive DisorderPhenotypePrevalence
2000
Marcador D8-17: implicações para a neuropsiquiatria
DINIZ J, DE ALVARENGA P, HOUNIE A, MIGUEL E. Marcador D8-17: implicações para a neuropsiquiatria. Arquivos De Neuro-Psiquiatria 2000, 58: 366-370. PMID: 10849643, DOI: 10.1590/s0004-282x2000000200028.Peer-Reviewed Original ResearchMeSH KeywordsAntibodies, MonoclonalBiomarkersChoreaGenetic Predisposition to DiseaseHumansIsoantigensMental DisordersObsessive-Compulsive DisorderRheumatic FeverTourette Syndrome