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Phenotypic association analyses with copy number variation in recurrent depressive disorder

Rucker, James J.H., Tansey, Katherine E., Rivera, Margarita, Pinto, Dalila, Cohen-Woods, Sarah, Uher, Rudolf, Aitchison, Katherine J., Craddock, Nick ORCID:, Owen, Michael J. ORCID:, Jones, Lisa ORCID:, Jones, Ian ORCID:, Korszun, Ania, Barnes, Michael R., Preisig, Martin, Mors, Ole, Maier, Wolfgang, Rice, John, Rietschel, Marcella, Holsboer, Florian, Farmer, Anne E., Craig, Ian W., Scherer, Stephen W., McGuffin, Peter and Breen, Gerome 2016. Phenotypic association analyses with copy number variation in recurrent depressive disorder. Biological Psychiatry 79 (4) , pp. 329-336. 10.1016/j.biopsych.2015.02.025

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Background: Defining the molecular genomic basis of the likelihood of developing depressive disorder is a considerable challenge. We previously associated rare, exonic deletion copy number variants (CNV) with recurrent depressive disorder (RDD). Sex chromosome abnormalities also have been observed to co-occur with RDD. Methods: In this reanalysis of our RDD dataset (N = 3106 cases; 459 screened control samples and 2699 population control samples), we further investigated the role of larger CNVs and chromosomal abnormalities in RDD and performed association analyses with clinical data derived from this dataset. Results: We found an enrichment of Turner’s syndrome among cases of depression compared with the frequency observed in a large population sample (N = 34,910) of live-born infants collected in Denmark (two-sided p = .023, odds ratio = 7.76 [95% confidence interval = 1.79–33.6]), a case of diploid/triploid mosaicism, and several cases of uniparental isodisomy. In contrast to our previous analysis, large deletion CNVs were no more frequent in cases than control samples, although deletion CNVs in cases contained more genes than control samples (two-sided p = .0002). Conclusions: After statistical correction for multiple comparisons, our data do not support a substantial role for CNVs in RDD, although (as has been observed in similar samples) occasional cases may harbor large variants with etiological significance. Genetic pleiotropy and sample heterogeneity suggest that very large sample sizes are required to study conclusively the role of genetic variation in mood disorders.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Neuroscience and Mental Health Research Institute (NMHRI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: C Auxiliary Sciences of History > CS Genealogy
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Elsevier
ISSN: 0006-3223
Date of Acceptance: 13 February 2015
Last Modified: 31 Oct 2022 08:59

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