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 ResearchConceptsDNA methylationCpG sitesSex-specific DNA methylationCord bloodIllumina HumanMethylation450 BeadChipPsychiatric outcomesMethylation profilesSex differencesHumanMethylation450 BeadChipBrains of boysMethylationXY probesPsychiatric disordersPsychiatric diseasesBrain tissueEnvironmental factorsBrain developmentNeurodevelopmental disordersPrimary driverGestationBloodPotential connectionBeadChipDisordersGenes
2016
Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry 2016, 6: e764-e764. PMID: 27023170, PMCID: PMC4872454, DOI: 10.1038/tp.2016.30.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsPPI networkPathway analysisProtein-protein interaction networkGenome-wide association studiesNovo single nucleotide variantsParticular biological pathwaysRare genetic variationDisease gene prioritizationDirect molecular interactionWhole-exome sequencing studiesGene discoveryNetwork genesSpecific risk genesNetwork enrichmentGenetic variationInteraction networksGene prioritizationCandidate genesAssociation studiesBiological pathwaysSequencing platformsSequencing studiesWhole-exome sequencingGenesAn 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