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
2013
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Silgado J, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Restrepo S, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Duarte A, Vallada H, Van Nieuwerburgh F, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture. PLOS Genetics 2013, 9: e1003864. PMID: 24204291, PMCID: PMC3812053, DOI: 10.1371/journal.pgen.1003864.Peer-Reviewed Original ResearchConceptsGenome-wide complex trait analysisExpression quantitative trait lociGenetic architectureGenetic correlationsGenome-wide common variant dataQuantitative trait lociComplex trait analysisDistinct genetic architecturesGenomic architectureGenomic elementsFunctional annotationMinor allele frequencyTrait lociPrevious heritability estimatesMAF binsGWAS studiesGene expressionTrait analysisHeritabilityGenetic overlapVariant dataHeritability estimatesAllele frequenciesCommon variationSNPs
2012
Association 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 ResearchConceptsObsessive-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
2011
Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment
Miguita K, Cordeiro Q, Shavitt R, Miguel E, Vallada H. Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment. Arquivos De Neuro-Psiquiatria 2011, 69: 283-287. PMID: 21625751, DOI: 10.1590/s0004-282x2011000300003.Peer-Reviewed Original ResearchMeSH KeywordsAdultAntidepressive Agents, TricyclicClomipramineDopamine Plasma Membrane Transport ProteinsFemaleGene FrequencyGenotypeHumansMaleMutationNorepinephrine Plasma Membrane Transport ProteinsObsessive-Compulsive DisorderPolymorphism, GeneticReceptors, SerotoninSerotonin Plasma Membrane Transport ProteinsYoung Adult
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
2003
Association analysis of the catechol‐o‐methyltransferase (COMT ), serotonin transporter (5‐HTT ) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive‐compulsive disorder
Meira‐Lima I, Shavitt R, Miguita K, Ikenaga E, Miguel E, Vallada H. Association analysis of the catechol‐o‐methyltransferase (COMT ), serotonin transporter (5‐HTT ) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive‐compulsive disorder. Genes Brain & Behavior 2003, 3: 75-79. PMID: 15005715, DOI: 10.1046/j.1601-1848.2003.0042.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionCarrier ProteinsCase-Control StudiesCatechol O-MethyltransferaseFemaleGene FrequencyHumansMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsObsessive-Compulsive DisorderPolymorphism, GeneticReceptor, Serotonin, 5-HT2AReference ValuesRegulatory Sequences, Nucleic AcidSerotonin Plasma Membrane Transport ProteinsConceptsObsessive-compulsive disorderGene polymorphismsT variantOCD patientsSerotonin receptor type 2A geneSerotonin-2A receptor gene polymorphismCross-sectional studyReceptor gene polymorphismsStrong genetic factorGenetic risk factorsControl subjectsRisk factorsDopaminergic systemDisease pathogenesisControl groupSerotonin transporter genePharmacological studiesPatientsGenetic factorsGenotypic distributionPrecise mechanismSignificant differencesFurther studiesCOMT geneFrequency of alleles