Biological psychiatry · 2008
Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample.
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Soronen Pia, Silander Kaisa, Antila Mervi, Palo Outi M, Tuulio-Henriksson Annamari, Kieseppä Tuula, Ellonen Pekka, Wedenoja Juho, Turunen Joni A, Pietiläinen Olli P H, Hennah William, Lönnqvist Jouko, Peltonen Leena, Partonen Timo, Paunio Tiina
Аннотация
BACKGROUND: Bipolar disorder and schizophrenia are hypothesized to share some genetic background.
METHODS: In a two-phase study, we evaluated the effect of five promising candidate genes for psychotic disorders, DAOA, COMT, DTNBP1, NRG1, and AKT1, on bipolar spectrum disorder, psychotic disorder, and related cognitive endophenotypes in a Finnish family-based sample ascertained for bipolar disorder.
RESULTS: In initial screening of 362 individuals from 63 families, we found only marginal evidence for association with the diagnosis-based dichotomous classification. Those associations did not strengthen when we genotyped the complete sample of 723 individuals from 180 families. We observed a significant association of DAOA variants rs3916966 and rs2391191 with visuospatial ability (Quantitative Transmission Disequilibrium Test [QTDT]; p = 4 x 10(-6) and 5 x 10(-6), respectively) (n = 159) with the two variants in almost complete linkage disequilibrium. The COMT variant rs165599 also associated with visuospatial ability, and in our dataset, we saw an additive effect of DAOA and COMT variants on this neuropsychological trait.
CONCLUSIONS: The ancestral allele (Arg) of the nonsynonymous common DAOA variant rs2391191 (Arg30Lys) was found to predispose to impaired performance. The DAOA gene may play a role in predisposing individuals to a mixed phenotype of psychosis and mania and to impairments in related neuropsychological traits.
METHODS: In a two-phase study, we evaluated the effect of five promising candidate genes for psychotic disorders, DAOA, COMT, DTNBP1, NRG1, and AKT1, on bipolar spectrum disorder, psychotic disorder, and related cognitive endophenotypes in a Finnish family-based sample ascertained for bipolar disorder.
RESULTS: In initial screening of 362 individuals from 63 families, we found only marginal evidence for association with the diagnosis-based dichotomous classification. Those associations did not strengthen when we genotyped the complete sample of 723 individuals from 180 families. We observed a significant association of DAOA variants rs3916966 and rs2391191 with visuospatial ability (Quantitative Transmission Disequilibrium Test [QTDT]; p = 4 x 10(-6) and 5 x 10(-6), respectively) (n = 159) with the two variants in almost complete linkage disequilibrium. The COMT variant rs165599 also associated with visuospatial ability, and in our dataset, we saw an additive effect of DAOA and COMT variants on this neuropsychological trait.
CONCLUSIONS: The ancestral allele (Arg) of the nonsynonymous common DAOA variant rs2391191 (Arg30Lys) was found to predispose to impaired performance. The DAOA gene may play a role in predisposing individuals to a mixed phenotype of psychosis and mania and to impairments in related neuropsychological traits.
Предметные рубрики MeSH
Analysis of VarianceBipolar DisorderCarrier ProteinsCatechol O-MethyltransferaseFamily HealthFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansIntracellular Signaling Peptides and ProteinsLinkage DisequilibriumMaleNeuropsychological TestsPhotic StimulationPolymorphism, Single NucleotideSpace Perception