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dc.contributor.authorThompson, Carlie A.
dc.contributor.authorKarelis, Jason
dc.contributor.authorMiddleton, Frank A.
dc.contributor.authorGentile, Karen
dc.contributor.authorComan, Ioana L.
dc.contributor.authorRadoeva, Petya D.
dc.contributor.authorMehta, Rashi
dc.contributor.authorFremont, Wanda P.
dc.contributor.authorAntshel, Kevin M.
dc.contributor.authorFaraone, Stephen V.
dc.contributor.authorKates, Wendy R.
dc.date.accessioned2021-06-30T16:32:48Z
dc.date.available2021-06-30T16:32:48Z
dc.date.issued2017-01-31
dc.identifier.citationThompson CA, Karelis J, Middleton FA, Gentile K, Coman IL, Radoeva PD, Mehta R, Fremont WP, Antshel KM, Faraone SV, Kates WR. 2017. Associations Between Neurodevelopmental Genes, Neuroanatomy, and Ultra High Risk Symptoms of Psychosis in 22q11.2 Deletion Syndrome. Am J Med Genet Part B 174B:295–314en_US
dc.identifier.issn1552-4841
dc.identifier.doi10.1002/ajmg.b.32515
dc.identifier.urihttp://hdl.handle.net/20.500.12648/1796
dc.description.abstract22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer. Participants were genotyped for 10 SNPs in the COMT, DGCR8, GNB1L, PIK4CA, PRODH, RTN4R, and ZDHHC8 genes. All subjects were assessed for ultra high risk symptoms of psychosis. Allelic variation of the rs701428 SNP of RTN4R was significantly associated with volumetric differences in gray matter of the lingual gyrus and cuneus of the occipital lobe. Moreover, occipital gray matter volumes were robustly associated with ultra high risk symptoms of psychosis in the presence of the G allele of rs701428. Our results suggest that RTN4R, a relatively under-studied gene at the 22q11 locus, constitutes a susceptibility gene for psychosis in individuals with this syndrome through its alteration of the architecture of the brain. © 2017 Wiley Periodicals, Inc.en_US
dc.description.sponsorshipNational Institutes of Healthen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://doi.wiley.com/10.1002/tdm_license_1
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectvelo-cardio-facial syndrome; RTN4R; axonal development; Freesurfer; schizophreniaen_US
dc.titleAssociations between neurodevelopmental genes, neuroanatomy, and ultra high risk symptoms of psychosis in 22q11.2 deletion syndromeen_US
dc.typeArticleen_US
dc.source.journaltitleAmerican Journal of Medical Genetics Part B: Neuropsychiatric Geneticsen_US
dc.source.volume174
dc.source.issue3
dc.source.beginpage295
dc.source.endpage314
dc.description.versionAMen_US
refterms.dateFOA2018-01-31T00:00:00Z
dc.description.institutionUpstate Medical Universityen_US
dc.description.departmentPsychiatryen_US
dc.description.degreelevelN/Aen_US


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