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
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