2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway
2006
Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia
Yasuno K, Ando S, Misumi S, Makino S, Kulski JK, Muratake T, Kaneko N, Amagane H, Someya T, Inoko H, Suga H, Kanemoto K, Tamiya. Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 144B: 250-253. PMID: 17066476, DOI: 10.1002/ajmg.b.30443.Peer-Reviewed Original ResearchMeSH KeywordsAllelesFemaleGenetic Predisposition to DiseaseHumansIon ChannelsLogistic ModelsMaleMembrane Transport ProteinsMitochondrial ProteinsMitochondrial Uncoupling ProteinsModels, GeneticNerve Tissue ProteinsNeuronsPolymorphism, Single NucleotideSchizophreniaSoftwareUncoupling Protein 1Uncoupling Protein 2ConceptsNeuronal UCPsCase-control studyPathophysiology of schizophreniaHomozygous risk allelesLogistic regression analysisNeuroprotective effectsTag SNPsBrain tissueModest associationRisk allelesSchizophreniaOxidative stressMitochondrial uncoupling protein (UCP) geneMitochondrial dysfunctionImportant involvementSynergistic interactionUncoupling Protein GeneGenetic etiologySignificant synergistic interactionMultifactor dimensionality reduction methodRegression analysisMultiple comparisonsUCP2Synergistic associationAssociation