Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
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Studies of rare genetic variation have identified molecular pathways conferring risk for developmental neuropsychiatric disorders. To date, no published whole-exome sequencing studies have been reported in obsessive-compulsive disorder (OCD). We sequenced all the genome coding regions in 20 sporadic OCD cases and their unaffected parents to identify rare de novo (DN) single-nucleotide variants (SNVs). The primary aim of this pilot study was to determine whether DN variation contributes to OCD risk. To this aim, we evaluated whether there is an elevated rate of DN mutations in OCD, which would justify this approach toward gene discovery in larger studies of the disorder. Furthermore, to explore functional molecular correlations among genes with nonsynonymous DN SNVs in OCD probands, a protein–protein interaction (PPI) network was generated based on databases of direct molecular interactions. We applied Degree-Aware Disease Gene Prioritization (DADA) to rank the PPI network genes based on their relatedness to a set of OCD candidate genes from two OCD genome-wide association studies (Stewart et al., 2013; Mattheisen et al., 2014). In addition, we performed a pathway analysis with genes from the PPI network. The rate of DN SNVs in OCD was 2.51 × 10−8 per base per generation, significantly higher than a previous estimated rate in unaffected subjects using the same sequencing platform and analytic pipeline. Several genes harboring DN SNVs in OCD were highly interconnected in the PPI network and ranked high in the DADA analysis. Nearly all the DN SNVs in this study are in genes expressed in the human brain, and a pathway analysis revealed enrichment in immunological and central nervous system functioning and development. The results of this pilot study indicate that further investigation of DN variation in larger OCD cohorts is warranted to identify specific risk genes and to confirm our preliminary finding with regard to PPI network enrichment for particular biological pathways and functions.
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Both genetic and environmental factors contribute to the risk of developing OCD.
“However, both genetic and environmental factors contribute to risk of developing OCD (11–17).”
From Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder (2020) · cites this paper as [13]
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- Authors
- Cappi, C., Brentani, H., Lima, L., Sanders, S. J., Zai, G., Diniz, B. J., Reis, V. N. S., Hounie, A. G., Conceição do Rosário, M., Mariani, D., Requena, G. L., Puga, R., Souza-Duran, F. L., Shavitt, R. G., Pauls, D. L., Miguel, E. C., & Fernandez, T. V.
- Affiliations
- Universidade de São Paulo (BR)
- University of California, San Francisco (US)
- Centre for Addiction and Mental Health (CA)
- Harvard University (US)
- Yale University (US)
- Corresponding author
- Fernandez, T V
- ORCID
- Venue
- Translational Psychiatry
- Published
- 2016-03-29
- Volume
- 6
- Issue
- 3
- Pages
- e764-e764
- ISSN
- 2158-3188 (ISSN-L)
- PMC
- PMC4872454
- OpenAlex
- W2333128705
- Cited by
- 71
- References
- 68
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 8 · 2023: 4 · 2022: 6 · 2021: 10 · 2020: 5 · 2019: 15 · 2018: 9 · 2017: 5 · 2016: 3
- FWCI
- 14.27
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Translational Psychiatry (publishedVersion, cc-by)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo (11/14658-2, 2011/)
- National Institute of Mental Health (L40 MH081784, K08MH099424)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- obsessive-compulsive disorder, de novo mutations, rare variants, single nucleotide variants, protein-protein interaction network, immune pathways, neurodevelopmental pathways, brain-expressed genes, risk genes
- MeSH terms
- Adolescent, Child, Family, Female, Humans, Male, Mutation, Nervous System, Obsessive-Compulsive Disorder, Pilot Projects, Signal Transduction, Case-Control Studies, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Immune System Phenomena, Exome, Protein Interaction Maps
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