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Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders
Background: Recent studies report an important—and previously underestimated—role of rare variation in risk of obsessive-compulsive disorder (OCD) and chronic tic disorders (CTD). Using data from a large epidemiological study, we evaluate the distribution of potentially damaging copy number variatio...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601402/ https://www.ncbi.nlm.nih.gov/pubmed/36292681 http://dx.doi.org/10.3390/genes13101796 |
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author | Mahjani, Behrang Birnbaum, Rebecca Buxbaum Grice, Ariela Cappi, Carolina Jung, Seulgi Avila, Marina Natividad Reichenberg, Abraham Sandin, Sven Hultman, Christina M. Buxbaum, Joseph D. Grice, Dorothy E. |
author_facet | Mahjani, Behrang Birnbaum, Rebecca Buxbaum Grice, Ariela Cappi, Carolina Jung, Seulgi Avila, Marina Natividad Reichenberg, Abraham Sandin, Sven Hultman, Christina M. Buxbaum, Joseph D. Grice, Dorothy E. |
author_sort | Mahjani, Behrang |
collection | PubMed |
description | Background: Recent studies report an important—and previously underestimated—role of rare variation in risk of obsessive-compulsive disorder (OCD) and chronic tic disorders (CTD). Using data from a large epidemiological study, we evaluate the distribution of potentially damaging copy number variation (pdCNV) in OCD and CTD, examining associations between pdCNV and the phenotypes of probands, including a consideration of early- vs. late-diagnoses. Method: The Obsessive-Compulsive Inventory-Revised (OCI-R) questionnaire was used to ascertain psychometric profiles of OCD probands. CNV were identified genome-wide using chromosomal microarray data. Results: For 993 OCD cases, 86 (9%) were identified as pdCNV carriers. The most frequent pdCNV found was at the 16p13.11 region. There was no significant association between pdCNV and the OCI-R total score. However, pdCNV was associated with Obsessing and Checking subscores. There was no significant difference in pdCNV frequency between early- vs. late-diagnosed OCD probands. Of the 217 CTD cases, 18 (8%) were identified as pdCNV carriers. CTD probands with pdCNV were significantly more likely to have co-occurring autism spectrum disorder (ASD). Conclusions: pdCNV represents part of the risk architecture for OCD and CTD. If replicated, our findings suggest pdCNV impact some OCD symptoms. Genes within the 16p13.11 region are potential OCD risk genes. |
format | Online Article Text |
id | pubmed-9601402 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96014022022-10-27 Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders Mahjani, Behrang Birnbaum, Rebecca Buxbaum Grice, Ariela Cappi, Carolina Jung, Seulgi Avila, Marina Natividad Reichenberg, Abraham Sandin, Sven Hultman, Christina M. Buxbaum, Joseph D. Grice, Dorothy E. Genes (Basel) Article Background: Recent studies report an important—and previously underestimated—role of rare variation in risk of obsessive-compulsive disorder (OCD) and chronic tic disorders (CTD). Using data from a large epidemiological study, we evaluate the distribution of potentially damaging copy number variation (pdCNV) in OCD and CTD, examining associations between pdCNV and the phenotypes of probands, including a consideration of early- vs. late-diagnoses. Method: The Obsessive-Compulsive Inventory-Revised (OCI-R) questionnaire was used to ascertain psychometric profiles of OCD probands. CNV were identified genome-wide using chromosomal microarray data. Results: For 993 OCD cases, 86 (9%) were identified as pdCNV carriers. The most frequent pdCNV found was at the 16p13.11 region. There was no significant association between pdCNV and the OCI-R total score. However, pdCNV was associated with Obsessing and Checking subscores. There was no significant difference in pdCNV frequency between early- vs. late-diagnosed OCD probands. Of the 217 CTD cases, 18 (8%) were identified as pdCNV carriers. CTD probands with pdCNV were significantly more likely to have co-occurring autism spectrum disorder (ASD). Conclusions: pdCNV represents part of the risk architecture for OCD and CTD. If replicated, our findings suggest pdCNV impact some OCD symptoms. Genes within the 16p13.11 region are potential OCD risk genes. MDPI 2022-10-05 /pmc/articles/PMC9601402/ /pubmed/36292681 http://dx.doi.org/10.3390/genes13101796 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Mahjani, Behrang Birnbaum, Rebecca Buxbaum Grice, Ariela Cappi, Carolina Jung, Seulgi Avila, Marina Natividad Reichenberg, Abraham Sandin, Sven Hultman, Christina M. Buxbaum, Joseph D. Grice, Dorothy E. Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders |
title | Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders |
title_full | Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders |
title_fullStr | Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders |
title_full_unstemmed | Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders |
title_short | Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders |
title_sort | phenotypic impact of rare potentially damaging copy number variation in obsessive-compulsive disorder and chronic tic disorders |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601402/ https://www.ncbi.nlm.nih.gov/pubmed/36292681 http://dx.doi.org/10.3390/genes13101796 |
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