An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
Open accessAbstract
Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case Control Consortium 2 (WTCCC2) schizophrenia sample of 1564 cases and 1748 controls all from Ireland, and further extended the analysis to include an additional 5196 UK controls. We found association with duplications at chr20p12.2 (P = 0.007) and evidence of replication in large independent European schizophrenia (P = 0.052) and UK bipolar disorder case-control cohorts (P = 0.047). A combined analysis of Irish/UK subjects including additional psychosis cases (schizophrenia and bipolar disorder) identified 22 carriers in 11 707 cases and 10 carriers in 21 204 controls [meta-analysis Cochran-Mantel-Haenszel P-value = 2 × 10(-4); odds ratio (OR) = 11.3, 95% CI = 3.7, ∞]. Nineteen of the 22 cases and 8 of the 10 controls carried duplications starting at 9.68 Mb with similar breakpoints across samples. By haplotype analysis and sequencing, we identified a tandem ~149 kb duplication overlapping the gene p21 Protein-Activated Kinase 7 (PAK7, also called PAK5) which was in linkage disequilibrium with local haplotypes (P = 2.5 × 10(-21)), indicative of a single ancestral duplication event. We confirmed the breakpoints in 8/8 carriers tested and found co-segregation of the duplication with illness in two additional family members of one of the affected probands. We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.
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PAK7 and GABRD have been associated with schizophrenia.
“PAK7 and GABRD which have been associated with schizophrenia49–52.”
From Oxytocin pathway gene networks in the human brain (2019) · cites this paper as [49]
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- Authors
- Morris, D. W., Pearson, R. D., Cormican, P., Kenny, E. M., O'Dushlaine, C. T., Perreault, L.-P. L., Giannoulatou, E., Tropea, D., Maher, B. S., Wormley, B., Kelleher, E., Fahey, C., Molinos, I., Bellini, S., Pirinen, M., Strange, A., Freeman, C., Thiselton, D. L., Elves, R. L., Regan, R., Ennis, S., Dinan, T. G., McDonald, C., Murphy, K. C., O'Callaghan, E., Waddington, J. L., Walsh, D., O'Donovan, M., Grozeva, D., Craddock, N., Stone, J., Scolnick, E., Purcell, S., Sklar, P., Coe, B., Eichler, E. E., Ophoff, R., Buizer, J., Szatkiewicz, J., Hultman, C., Sullivan, P., Gurling, H., Mcquillin, A., St Clair, D., Rees, E., Kirov, G., Walters, J., Blackwood, D., Johnstone, M., Donohoe, G., International Schizophrenia Consortium, S. C., O'Neill, F. A., Wellcome Trust Case Control Consortium 2, Kendler, K. S., Gill, M., Riley, B. P., Spencer, C. C. A., & Corvin, A.
- Affiliations
- Trinity College Dublin (IE)
- Centre for Human Genetics (GB)
- Broad Institute (US)
- Virginia Commonwealth University (US)
- University College Dublin (IE)
- University College Cork (IE)
- Ollscoil na Gaillimhe – University of Galway (IE)
- Royal College of Surgeons in Ireland (IE)
- Health Research Board (IE)
- Cardiff University (GB)
- Howard Hughes Medical Institute (US)
- University of California, Los Angeles (US)
- University of North Carolina at Chapel Hill (US)
- Karolinska Institutet (SE)
- University College London (GB)
- Royal Edinburgh Hospital (GB)
- Corresponding author
- Corvin, A.
- ORCID
- Morris, D. W.
- Pearson, R. D.
- Kenny, E. M.
- Perreault, L.-P. L.
- Giannoulatou, E.
- Tropea, D.
- Maher, B. S.
- Wormley, B.
- Kelleher, E.
- Pirinen, M.
- Strange, A.
- Ennis, S.
- Dinan, T. G.
- McDonald, C.
- Murphy, K. C.
- Waddington, J. L.
- Grozeva, D.
- Craddock, N.
- Scolnick, E.
- Purcell, S.
- Sklar, P.
- Coe, B.
- Eichler, E. E.
- Ophoff, R.
- Szatkiewicz, J.
- Sullivan, P.
- Mcquillin, A.
- Rees, E.
- Kirov, G.
- Walters, J.
- Johnstone, M.
- Donohoe, G.
- Kendler, K. S.
- Gill, M.
- Riley, B. P.
- Spencer, C. C. A.
- Corvin, A.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-01-28
- Volume
- 23
- Issue
- 12
- Pages
- 3316-3326
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC4030770
- OpenAlex
- W2150359400
- Cited by
- 42
- References
- 59
- Citations by year
- 2024: 3 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 8 · 2019: 3 · 2018: 6 · 2017: 2 · 2016: 6 · 2015: 2 · 2014: 7
- FWCI
- 4.32
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Human Molecular Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ARAN (University of Galway Research Repository) (Ollscoil na Gaillimhe – University of Galway) (acceptedVersion, cc-by-nc-nd)
- Minerva Access (University of Melbourne) (submittedVersion, other-oa)
- Arrow@dit (Dublin Institute of Technology) (submittedVersion, cc-by-nc-sa)
- ARAN (University of Galway Research Repository) (Ollscoil na Gaillimhe – University of Galway) (submittedVersion)
- Aberdeen University Research Archive (Aberdeen University) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- ARAN (University of Galway Research Repository) (Ollscoil na Gaillimhe – University of Galway) (submittedVersion, cc-by)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Funders
- Wellcome Trust (085475/Z/08/Z, 068545/Z/02), 097364/Z/11/Z, 085475, G0000934, 075491, /Z/11/Z, 068545, 100135, 072894, 075491/Z/04,, 090532, 085475/B/08/Z, 097364, 090532/Z/09/Z, 090532/Z/09/)
- Science Foundation Ireland (08/IN.1/B1916)
- Medical Research Council (068545/Z/02, G0000934, 090532/Z09/Z, MR/L010305/1)
- National Institute of Mental Health (R01MH041953, MH-083094, MH41953, R01MH083094)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- PAK5, copy number variation, gene duplication, schizophrenia, psychosis, bipolar disorder, psychosis risk, chromosomal duplication, linkage disequilibrium, haplotype analysis, DISC1, synaptic development, synaptic plasticity
- MeSH terms
- Bipolar Disorder, Female, Humans, Male, Nerve Tissue Proteins, Neuronal Plasticity, Psychotic Disorders, Schizophrenia, Linkage Disequilibrium, Case-Control Studies, Genetic Predisposition to Disease, White People, p21-Activated Kinases, Genome-Wide Association Study, Chromosome Breakpoints, DNA Copy Number Variations, Chromosome Duplication
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