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Psychoneuroendocrinology. 2013 Nov;38(11):2826-9. doi: 10.1016/j.psyneuen.2013.07.007. Epub 2013 Aug 12.

Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18 kDa Translocator Protein (TSPO).

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  • 1Division of Brain Sciences, Imperial College, London, United Kingdom; Imanova Centre for Imaging Sciences, Hammersmith Hospital Campus, London, United Kingdom. Electronic address: a.colasanti@imperial.ac.uk.

Abstract

TSPO mediated transport of cholesterol into the mitochondrion is a necessary step in steroid synthesis. The rs6971 polymorphism in the TSPO gene causes an amino acid substitution (Ala147Thr) within the transmembrane domain where the cholesterol-binding pocket is located, and has been shown to affect the steroidogenic pathway. We report a nominal association between this TSPO polymorphism and the diagnosis of Bipolar Disorder in both the genome-wide dataset of the Wellcome Trust Case-Control Consortium and the Psychiatric Genome-Wide Association Study Consortium Bipolar Disorder group (OR=1.11, p=0.007; OR=1.10, p=0.011, respectively). We propose that the amino acid substitution affects hypothalamic-pituitary-adrenal (HPA) regulation, and hence may predispose to Bipolar Disorder. This supports the hypothesis that HPA dysregulation has a causal role in Bipolar Disorder, and is not just a consequence of the disease.

Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

KEYWORDS:

Bipolar Disorder; Cortisol; Genome-wide; HPA; Mitochondria; Neurosteroids; Polymorphism; Translocator Protein; WTCCC; rs6971

PMID:
23942012
[PubMed - indexed for MEDLINE]
PMCID:
PMC3820042
Free PMC Article
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