Journal
PSYCHIATRY RESEARCH
Volume 259, Issue -, Pages 197-202Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.psychres.2017.10.018
Keywords
Single nucleotide polymorphism; BBOX gene; Schizophrenia; MIA animal model; Gene expression
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Funding
- Basic Science Research Program through the National Research Foundation of Korea (NRF) - Ministry of Education [2016R1D1A1B03931619]
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Prenatal exposure to infectious or inflammatory insults can increase the risk of developing neuropsychiatric disorders such as bipolar disorder, autism, and schizophrenia in later life. Gamma-butyrobetaine hydroxylase (BBOX 1) is an enzyme responsible for the biosynthesis of l-carnitine, a key molecule in fatty acid metabolism. This cytosolic dimeric protein belongs to the dioxygenase family. In this study, we investigated whether BBOX 1 expression was related to psychiatric disorder in an animal model. We also conducted a case control study using 284 schizophrenia patients and 409 controls with single-nucleotide polymorphisms (SNPs) in the 5'-near region of BBOX 1. BBOX 1 expression was increased in the medial frontal cortex of a mouse model of schizophrenia induced by maternal immune activation. Furthermore, the genotype and allele frequencies of two SNPs (rs7939644 and rs10767592) were significantly associated with schizophrenia susceptibility. Our results suggest that BBOX 1 might be associated with maternal immune activation and schizophrenia susceptibility. Therefore, it might be involved in the pathophysiology of schizophrenia.
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