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Biomolecules 2018, 8(4), 164;

Association of Genetic Variation at AQP4 Locus with Vascular Depression

Department of Psychiatry and Psychotherapy, University Medical Center Schleswig-Holstein—Campus Lübeck, 23562 Lübeck, Germany
Institute for Cardiogenetics, University of Lübeck, 23562 Lübeck, Germany
DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, 23562 Lübeck, Germany
University Heart Center Lübeck, 23562 Lübeck, Germany
Department of Periodontology and Synoptic Dentistry, Institute of Health, Institute for Dental and Craniofacial Sciences, Charité–University Medicine Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany
German Heart Center Munich, Technical University Munich, 80636 Munich, Germany
DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80636 Munich, Germany
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 8 October 2018 / Revised: 27 November 2018 / Accepted: 27 November 2018 / Published: 5 December 2018
(This article belongs to the Special Issue Biomolecules for Translational Approaches in Cardiology)
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Despite its substantial clinical importance, specific genetic variants associated with depression have not yet been identified. We sought to identify genetic variants associated with depression by (a) focusing on a more homogenous subsample (vascular depression) and (b) applying a three-stage approach. First, we contacted 730 participants with a confirmed atherosclerotic disease (coronary artery disease) from a population-based study population (German Myocardial Infarction Family Study IV) for psychiatric assessment with the Mini International Neuropsychiatric Interview. Second, we genotyped these patients using genome-wide single nucleotide polymorphism (SNP) arrays. Third, we characterized the SNP via in-silico analysis. The final sample consisted of 342 patients (78.3% male, age = 63.2 ± 9.9 years), 22.8% with a severe depressive disorder. Variant rs528732638 on chromosome 18q11.2 was a genome-wide significant variant and was associated with 3.6-fold increase in the odds of lifetime depression. The locus belongs to a linkage disequilibrium block showing expression quantitative trait loci effects on three putative cis-regulated genes, including the aquaporin 4 (AQP4) locus. AQP4 is already known to mediate the formation of ischemic edema in the brain and heart, increasing the size and extent of resulting lesions. Our findings indicate that AQP4 may also play a role in the etiopathology of vascular depression. View Full-Text
Keywords: genome-wide association study; coronary artery disease; late-onset depression; vascular depression; aquaporin; AQP4; chromosome 18q11.2 genome-wide association study; coronary artery disease; late-onset depression; vascular depression; aquaporin; AQP4; chromosome 18q11.2

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Westermair, A.L.; Munz, M.; Schaich, A.; Nitsche, S.; Willenborg, B.; Muñoz Venegas, L.M.; Willenborg, C.; Schunkert, H.; Schweiger, U.; Erdmann, J. Association of Genetic Variation at AQP4 Locus with Vascular Depression. Biomolecules 2018, 8, 164.

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