2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree
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