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Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls.


ABSTRACT: Brain white matter abnormalities are evident in individuals with schizophrenia, and also their first-degree relatives, suggesting that some alterations may relate to underlying genetic risk. The ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2) gene, which encodes the alpha-2,8-sialyltransferase 8B enzyme that aids neuronal migration and synaptic plasticity, was previously implicated as a schizophrenia susceptibility gene. This study examined the extent to which specific haplotypes in ST8SIA2 influence white matter microstructure using diffusion-weighted imaging of individuals with schizophrenia (n?=?281) and healthy controls (n?=?172), recruited across five Australian sites. Interactions between diagnostic status and the number of haplotype copies (0 or ?1) were tested across all white matter voxels with cluster-based statistics. Fractional anisotropy (FA) in the right parietal lobe was found to show a significant interaction between diagnosis and ST8SIA2 protective haplotype (p?

SUBMITTER: Fullerton JM 

PROVIDER: S-EPMC5802561 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls.

Fullerton Janice M JM   Klauser Paul P   Lenroot Rhoshel K RK   Shaw Alex D AD   Overs Bronwyn B   Heath Anna A   Cairns Murray J MJ   Atkins Joshua J   Scott Rodney R   Schofield Peter R PR   Weickert Cyndi Shannon CS   Pantelis Christos C   Fornito Alex A   Whitford Thomas J TJ   Weickert Thomas W TW   Zalesky Andrew A  

Translational psychiatry 20180122 1


Brain white matter abnormalities are evident in individuals with schizophrenia, and also their first-degree relatives, suggesting that some alterations may relate to underlying genetic risk. The ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2) gene, which encodes the alpha-2,8-sialyltransferase 8B enzyme that aids neuronal migration and synaptic plasticity, was previously implicated as a schizophrenia susceptibility gene. This study examined the extent to which specific hap  ...[more]

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