Colasanti, Alessandro, Owen, David R., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Rabiner, Eugenii A., Matthews, Paul M., Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 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 |
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 |
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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: | 16 Nov 2022 08:27 |
URI: | https://orca.cardiff.ac.uk/id/eprint/76709 |
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