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

Colasanti, Alessandro, Owen, David R., Grozeva, Detelina, Rabiner, Eugenii A., Matthews, Paul M., Craddock, Nicholas John and Young, Allan H. 2013. Bipolar disorder is associated with the rs6971 polymorphism in the gene encoding 18kDa Translocator Protein (TSPO). Psychoneuroendocrinology 38 (11) , pp. 2826-9. 10.1016/j.psyneuen.2013.07.007

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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

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 0306-4530
Last Modified: 04 Jun 2017 08:22
URI: http://orca.cf.ac.uk/id/eprint/76709

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