Neuropsychological effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253.

Hdl Handle:
http://hdl.handle.net/10147/299002
Title:
Neuropsychological effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253.
Authors:
Donohoe, G; Walters, J; Hargreaves, A; Rose, E J; Morris, D W; Fahey, C; Bellini, S; Cummins, E; Giegling, I; Hartmann, A M; Möller, H-J; Muglia, P; Owen, M J; Gill, M; O'Donovan, M C; Tropea, D; Rujescu, D; Corvin, A
Affiliation:
Neuropsychiatric Genetics Group, Department of Psychiatry, Institute of Molecular Medicine, Trinity College Dublin, St. James Hospital, Dublin, Ireland. gary.donohoe@tcd.ie
Citation:
Neuropsychological effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253. 2013, 12 (2):203-9 Genes Brain Behav.
Journal:
Genes, brain, and behavior
Issue Date:
Mar-2013
URI:
http://hdl.handle.net/10147/299002
DOI:
10.1111/gbb.12016
PubMed ID:
23320435
Abstract:
The 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.
Item Type:
Article
Language:
en
MeSH:
Adolescent; Adult; Aged; Alleles; Attention; Brain; Case-Control Studies; Cognition; Genetic Predisposition to Disease; Genome-Wide Association Study; Germany; Humans; Ireland; Membrane Proteins; Memory, Episodic; Middle Aged; Neuropsychological Tests; Phenotype; Polymorphism, Single Nucleotide; Schizophrenia
ISSN:
1601-183X

Full metadata record

DC FieldValue Language
dc.contributor.authorDonohoe, Gen_GB
dc.contributor.authorWalters, Jen_GB
dc.contributor.authorHargreaves, Aen_GB
dc.contributor.authorRose, E Jen_GB
dc.contributor.authorMorris, D Wen_GB
dc.contributor.authorFahey, Cen_GB
dc.contributor.authorBellini, Sen_GB
dc.contributor.authorCummins, Een_GB
dc.contributor.authorGiegling, Ien_GB
dc.contributor.authorHartmann, A Men_GB
dc.contributor.authorMöller, H-Jen_GB
dc.contributor.authorMuglia, Pen_GB
dc.contributor.authorOwen, M Jen_GB
dc.contributor.authorGill, Men_GB
dc.contributor.authorO'Donovan, M Cen_GB
dc.contributor.authorTropea, Den_GB
dc.contributor.authorRujescu, Den_GB
dc.contributor.authorCorvin, Aen_GB
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.en_GB
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

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