A common microdeletion affecting a hippocampus‐ and amygdala‐specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders. (23rd April 2014)

• Record Type: Journal Article
• Authors: Hammer, Christian; Degenhardt, Franziska; Priebe, Lutz; Stütz, Adrian M; Heilmann, Stefanie; Waszak, Sebastian M; Schlattl, Andreas; Mangold, Elisabeth; Hoffmann, Per; MooDS Consortium; Nöthen, Markus M; Rietschel, Marcella; Rappold, Gudrun; Korbel, Jan; Cichon, Sven; Niesler, Beate
• Is Part Of: Bipolar disorders. Volume 16:Number 7(2014)
• Page Start: 764
• Page End: 768
• Publication Date: 2014-04-23
• Subjects: Manic-depressive illness -- Periodicals; Depression, Mental -- Periodicals; 616.895
• DOI: 10.1111/bdi.12207
• Languages: English
• ISSNs: 1398-5647

Abstract

<abstract abstract-type="main" id="bdi12207-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdi12207-sec-0001" sec-type="section"> <title>Objectives</title> <p>Copy number variants (CNVs) have been shown to affect susceptibility for neuropsychiatric disorders. To date, studies implicating the serotonergic system in complex conditions have just focused on single nucleotide polymorphisms (SNPs). We therefore sought to identify novel common genetic copy number polymorphisms affecting genes of the serotonergic system, and to assess their putative role in bipolar affective disorder (BPAD) and major depressive disorder (MDD).</p> </sec> <sec id="bdi12207-sec-0002" sec-type="section"> <title>Methods</title> <p>A selection of 41 genes of the serotonergic system encoding receptors, the serotonin transporter, metabolic enzymes and chaperones were investigated using a paired‐end mapping (PEM) approach on next‐generation sequencing data from the pilot project of the <italic>1000 Genomes Project</italic>. For association testing, 593 patients with MDD, 1, 145 patients with BPAD, and 1, 738 healthy controls were included in the study.</p> </sec> <sec id="bdi12207-sec-0003" sec-type="section"> <title>Results</title> <p>PEM led to the identification of a microdeletion in the gene encoding tryptophan hydroxylase 2 (<italic>TPH2</italic>), affecting an amygdala‐ and hippocampus‐specific isoform. It was not associated with BPAD or MDD using a case–control association approach.</p> </sec> <sec id="bdi12207-sec-0004" sec-type="section"> <title>Conclusions</title> <p>We did not find evidence for a role of the <italic>TPH2</italic> microdeletion in the pathoetiology of affective disorders. Further studies examining its putative role in behavioral traits regulated by the limbic system are warranted.</p> </sec> </abstract>