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dc.contributor.authorDonohoe, G
dc.contributor.authorWalters, J
dc.contributor.authorHargreaves, A
dc.contributor.authorRose, E J
dc.contributor.authorMorris, D W
dc.contributor.authorFahey, C
dc.contributor.authorBellini, S
dc.contributor.authorCummins, E
dc.contributor.authorGiegling, I
dc.contributor.authorHartmann, A M
dc.contributor.authorMöller, H-J
dc.contributor.authorMuglia, P
dc.contributor.authorOwen, M J
dc.contributor.authorGill, M
dc.contributor.authorO'Donovan, M C
dc.contributor.authorTropea, D
dc.contributor.authorRujescu, D
dc.contributor.authorCorvin, A
dc.date.accessioned2013-08-16T14:24:14Z
dc.date.available2013-08-16T14:24:14Z
dc.date.issued2013-03
dc.identifier.citationNeuropsychological effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253. 2013, 12 (2):203-9 Genes Brain Behav.en_GB
dc.identifier.issn1601-183X
dc.identifier.pmid23320435
dc.identifier.doi10.1111/gbb.12016
dc.identifier.urihttp://hdl.handle.net/10147/299002
dc.description.abstractThe single-nucleotide polymorphism (SNP) rs10503253, located within the CUB and Sushi multiple domains-1 (CSMD1) gene on 8p23.2, was recently identified as genome-wide significant for schizophrenia (SZ), but is of unknown function. We investigated the neurocognitive effects of this CSMD1 variant in vivo in patients and healthy participants using behavioral and imaging measures of brain structure and function. We compared carriers and non-carriers of the risk 'A' allele on measures of neuropsychological performance typically impaired in SZ (general cognitive ability, episodic and working memory and attentional control) in independent samples of Irish patients (n = 387) and controls (n = 171) and German patients (205) and controls (n = 533). Across these groups, the risk 'A' allele at CSMD1 was associated with deleterious effects across a number of neurocognitive phenotypes. Specifically, the risk allele was associated with poorer performance on neuropsychological measures of general cognitive ability and memory function but not attentional control. These effects, while significant, were subtle, and varied between samples. Consistent with previous evidence suggesting that CSMD1 may be involved in brain mechanisms related to memory and learning, these data appear to reflect the deleterious effects of the identified 'A' risk allele on neurocognitive function, possibly as part of the mechanism by which CSMD1 is associated with SZ risk.
dc.language.isoenen
dc.rightsArchived with thanks to Genes, brain, and behavioren_GB
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshAlleles
dc.subject.meshAttention
dc.subject.meshBrain
dc.subject.meshCase-Control Studies
dc.subject.meshCognition
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGenome-Wide Association Study
dc.subject.meshGermany
dc.subject.meshHumans
dc.subject.meshIreland
dc.subject.meshMembrane Proteins
dc.subject.meshMemory, Episodic
dc.subject.meshMiddle Aged
dc.subject.meshNeuropsychological Tests
dc.subject.meshPhenotype
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshSchizophrenia
dc.titleNeuropsychological effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253.en_GB
dc.typeArticleen
dc.contributor.departmentNeuropsychiatric Genetics Group, Department of Psychiatry, Institute of Molecular Medicine, Trinity College Dublin, St. James Hospital, Dublin, Ireland. gary.donohoe@tcd.ieen_GB
dc.identifier.journalGenes, brain, and behavioren_GB
dc.description.fundingSFI Science Foundation Irelanden
dc.description.provinceLeinsteren
dc.description.peer-reviewpeer-reviewen
html.description.abstractThe single-nucleotide polymorphism (SNP) rs10503253, located within the CUB and Sushi multiple domains-1 (CSMD1) gene on 8p23.2, was recently identified as genome-wide significant for schizophrenia (SZ), but is of unknown function. We investigated the neurocognitive effects of this CSMD1 variant in vivo in patients and healthy participants using behavioral and imaging measures of brain structure and function. We compared carriers and non-carriers of the risk 'A' allele on measures of neuropsychological performance typically impaired in SZ (general cognitive ability, episodic and working memory and attentional control) in independent samples of Irish patients (n = 387) and controls (n = 171) and German patients (205) and controls (n = 533). Across these groups, the risk 'A' allele at CSMD1 was associated with deleterious effects across a number of neurocognitive phenotypes. Specifically, the risk allele was associated with poorer performance on neuropsychological measures of general cognitive ability and memory function but not attentional control. These effects, while significant, were subtle, and varied between samples. Consistent with previous evidence suggesting that CSMD1 may be involved in brain mechanisms related to memory and learning, these data appear to reflect the deleterious effects of the identified 'A' risk allele on neurocognitive function, possibly as part of the mechanism by which CSMD1 is associated with SZ risk.


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