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
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