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 sequencingGenes
2014
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD
Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD. American Journal Of Psychiatry 2014, 172: 82-93. PMID: 25158072, PMCID: PMC4282594, DOI: 10.1176/appi.ajp.2014.13101306.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsPolygenic score analysisGene expression levelsGenetic architecturePhenotypic varianceCombined genome-wide association studyFunctional variantsPolygenic componentPolygenic signalSignificant polygenic componentExpression levelsGWAS summary statisticsAncestry-matched controlsBrain gene expression levelsComplex genetic relationshipsHeritable neurodevelopmental disorderTrue functional variantsParent-child triosGWAS signalsIndividual single nucleotide polymorphismsWide analysisGenetic variationUnderlying genetic susceptibilityAssociation studies
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