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dc.contributor.authorClemm von Hohenberg, Christian
dc.contributor.authorWigand, Marlene C.
dc.contributor.authorKubicki, Marek R.
dc.contributor.authorLeicht, Gregor
dc.contributor.authorGiegling, Ina
dc.contributor.authorKarch, Susanne
dc.contributor.authorHartmann, Annette M.
dc.contributor.authorKonte, Bettina
dc.contributor.authorFriedl, Marion
dc.contributor.authorBallinger, Thomas
dc.contributor.authorEckbo, Ryan
dc.contributor.authorBouix, Sylvain
dc.contributor.authorJäger, Lorenz
dc.contributor.authorShenton, Martha Elizabeth
dc.contributor.authorRujescu, Dan
dc.contributor.authorMulert, Christoph
dc.date.accessioned2016-09-20T20:37:57Z
dc.date.issued2013
dc.identifier.citationClemm von Hohenberg, Christian, Marlene C. Wigand, Marek Kubicki, Gregor Leicht, Ina Giegling, Susanne Karch, Annette M. Hartmann, et al. 2013. “CNTNAP2 Polymorphisms and Structural Brain Connectivity: A Diffusion-Tensor Imaging Study.” Journal of Psychiatric Research 47 (10) (October): 1349–1356. doi:10.1016/j.jpsychires.2013.07.002.en_US
dc.identifier.issn0022-3956en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:28539568
dc.description.abstractCNTNAP2 is a gene on chromosome 7 that has shown associations with autism andschizophrenia, and there is evidence that it plays an important role for neuronal synchronization and brain connectivity. In this study, we assessed the relationship between Diffusion Tensor Imaging (DTI), a putative marker of anatomical brain connectivity, and multiple single nucleotide polymorphisms (SNPs) spread out over this large gene. 81 healthy controls and 44 patients with schizophrenia (all Caucasian) underwent DTI and genotyping of 31 SNPs within CNTNAP2. We employed Tract-based Spatial Statistics (TBSS) for inter-subject brain registration and computed average diffusivity values for six major white matter tracts. Analyses of Covariance (ANCOVAs) were computed to test for possible associations with genotypes. The strongest association, which survived rigorous Bonferroni correction, was between rs2710126 genotype and Fractional Anisotropy (FA) in the uncinate fasciculus (p=.00003). This anatomical location is particularly interesting given the enriched fronto-temporal expression of CNTNAP2 in the developing brain. For this SNP, no phenotype association has been reported before. There were several further genotype-DTI associations that were nominally significant but did not survive Bonferroni correction, including an association between axial diffusivity in the dorsal cingulum bundle and a region in intron 13 (represented by rs2710102, rs759178, rs2538991), which has previously been reported to be associated with anterior-posterior functional connectivity. We present new evidence about the effects of CNTNAP2 on brain connectivity, whose disruption has been hypothesized to be central to schizophrenia pathophysiology.en_US
dc.language.isoen_USen_US
dc.publisherElsevier BVen_US
dc.relation.isversionofdoi:10.1016/j.jpsychires.2013.07.002en_US
dc.relation.hasversionhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3780783/en_US
dash.licenseLAA
dc.subjectCaspr2en_US
dc.subjectgeneticsen_US
dc.subjectendophenotypeen_US
dc.subjectmagnetic resonance imagingen_US
dc.subjectschizophreniaen_US
dc.subjectautismen_US
dc.titleCNTNAP2 polymorphisms and structural brain connectivity: A diffusion-tensor imaging studyen_US
dc.typeJournal Articleen_US
dc.description.versionAccepted Manuscripten_US
dc.relation.journalJournal of Psychiatric Researchen_US
dash.depositing.authorShenton, Martha Elizabeth
dc.date.available2016-09-20T20:37:57Z
dc.identifier.doi10.1016/j.jpsychires.2013.07.002*
dash.authorsorderedfalse
dash.identifier.orcid0000-0003-4235-7879en_US
dash.contributor.affiliatedKubicki, Marek
dash.contributor.affiliatedBouix, Sylvain
dash.contributor.affiliatedShenton, Martha


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