Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: A role in schizophrenia susceptibility?

Journal article


Andrews, Jessica L. and Fernandez-Enright, Francesca. (2014). Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: A role in schizophrenia susceptibility? Genetics Research. 96(e15), pp. 1 - 9. https://doi.org/10.1017/S0016672314000184
AuthorsAndrews, Jessica L. and Fernandez-Enright, Francesca
Abstract

Despite extensive research during the last few decades, the etiology of schizophrenia remains unclear. Evidence of both genetic and environmental influences in the developmental profile of schizophrenia has grown, and due to the complexity of this disorder, a polygenic aspect has been associated with this neuropsychiatric pathology. Unfortunately, no diagnostic strategies based on biological measurement or genetic testing is currently available for schizophrenia. Gene-expression profiling and recent protein studies have shown a decrease in the expression of ubiquitin pathway proteins in the prefrontal cortex of schizophrenia patients. We have examined single nucleotide polymorphisms (or SNPs) within three genes from the ubiquitin protein system: the ubiquitin conjugating enzyme E2D1 (UBE2D1) gene, the E3 SUMO-protein ligase protein inhibitor of activated STAT 2 (PIAS2) gene, and the E3 ubiquitin ligase F-box and leucine-rich repeat protein 21 (FBXL21) gene, in a Caucasian case–control population for schizophrenia. After Bonferroni correction for multiple testing was applied, no significant associations were reported for any of the tested SNPs. Additional genetic analyses will be necessary to fully explore the role of these three genes in schizophrenia. Regarding the rising interest in ubiquitin-related proteins as a therapeutic target in other pathologies such as cancer, further research into the role of ubiquitin pathways in schizophrenia seems topical and timely.

Year2014
JournalGenetics Research
Journal citation96 (e15), pp. 1 - 9
PublisherCambridge University Press
ISSN0016-6723
Digital Object Identifier (DOI)https://doi.org/10.1017/S0016672314000184
Scopus EID2-s2.0-84941001033
Page range1 - 9
Research GroupSchool of Behavioural and Health Sciences
Publisher's version
File Access Level
Controlled
Place of publicationUnited Kingdom
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