Disruption of the neurexin 1 gene is associated with schizophrenia
| Autor: | Toulopoulou, T, Wiersma, D, Murray, R, Ruggeri, M, Tosato, S, Bonetto, C, Steinberg, S, Sigurdsson, E, Sigmundsson, T, Petursson, H, Gylfason, A, Olason, PI, Hardarsson, G, Jonsdottir, GA, Cahn, W, de Haan, L, Krabbendam, L, MyinGermeys, I, Werge, T, Kiemeney, LA, Franke, B, Pietiläinen, OPH, Picchioni, M, Vassos, E, Ettinger, U, Rietschel, M, Gustafsson, O, BuizerVoskamp, JE, Fossdal, R, Giegling, I, Sabatti, C, Ophoff, RA, Möller, HJ, Hartmann, AM, Hoffmann, P, Crombie, C, Rujescu, D, Veltman, J, Fraser, G, St Clair, D, Peltonen, L, Stefansson, K, Barnes, MR, Ingason, A, Stefansson, H, Nöthen, MM, Walker, N, Lonnqvist, J, Suvisaari, J, TuulioHenriksson, A, Djurovic, S, Collier, DA, Kahn, RS, Melle, I, Andreassen, OA, Hansen, T, Linszen, D, von Os, J, Bramon, E, Cichon, S, Bruggeman, R |
|---|---|
| Přispěvatelé: | ANS - Amsterdam Neuroscience, Adult Psychiatry, Germeys, Inez, Clinical Child and Family Studies, LEARN! - Brain, learning and development, Faculteit Medische Wetenschappen/UMCG |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Male
Genetics and epigenetic pathways of disease [NCMLS 6] Gene Dosage Aetiology screening and detection [ONCOL 5] CARDIO-FACIAL SYNDROME 0302 clinical medicine Gene Duplication Gene duplication Perception and Action [DCN 1] HUMAN GENOME Copy-number variation European Continental Ancestry Group/genetics Neural Cell Adhesion Molecules POPULATION Genetics (clinical) RISK Genetics 0303 health sciences education.field_of_study Schizophrenia/*genetics REARRANGEMENTS General Medicine Exons Nerve Tissue Proteins/*genetics Penetrance 3. Good health Female Molecular Sequence Numbers Functional Neurogenomics [DCN 2] Adult Psychosis Adolescent Cell Adhesion Molecules Neuronal Population European Continental Ancestry Group Nerve Tissue Proteins COPY-NUMBER VARIATION Biology Gene dosage Article White People STRUCTURAL VARIANTS Genomic disorders and inherited multi-system disorders [IGMD 3] Molecular epidemiology [NCEBP 1] 03 medical and health sciences Young Adult Translational research [ONCOL 3] mental disorders medicine Humans MICRODELETION Genetic Predisposition to Disease Gene Silencing education Molecular Biology 030304 developmental biology Genetic association Hereditary cancer and cancer-related syndromes [ONCOL 1] AUTISM SPECTRUM DISORDER Calcium-Binding Proteins Case-Control Studies Gene Deletion Breakpoint ADVANCING PATERNAL AGE medicine.disease Schizophrenia 030217 neurology & neurosurgery |
| Zdroj: | Human molecular genetics, 18(5), 988-996. Oxford University Press Human Molecular Genetics, 18, 5, pp. 988-96 Human Molecular Genetics, 18, 988-96 Human Molecular Genetics, 18(5), 988-996. Oxford University Press Rujescu, D & Krabbendam, L 2009, ' Disruption of the neurexin 1 gene is associated with schizophrenia ', Human Molecular Genetics, vol. 18, no. 5, pp. 988-996 . https://doi.org/10.1093/hmg/ddn351 Human Molecular Genetics; Vol Human Molecular Genetics |
| ISSN: | 0964-6906 |
| DOI: | 10.1093/hmg/ddn351 |
| Popis: | Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and NRXN3 genes, for copy number variants (CNVs) in 2977 schizophrenia patients and 33 746 controls from seven European populations (Iceland, Finland, Norway, Germany, The Netherlands, Italy and UK) using microarray data. We found 66 deletions and 5 duplications in NRXN1, including a de novo deletion: 12 deletions and 2 duplications occurred in schizophrenia cases (0.47%) compared to 49 and 3 (0.15%) in controls. There was no common breakpoint and the CNVs varied from 18 to 420 kb. No CNVs were found in NRXN2 or NRXN3. We performed a Cochran-Mantel-Haenszel exact test to estimate association between all CNVs and schizophrenia (P = 0.13; OR = 1.73; 95% CI 0.81-3.50). Because the penetrance of NRXN1 CNVs may vary according to the level of functional impact on the gene, we next restricted the association analysis to CNVs that disrupt exons (0.24% of cases and 0.015% of controls). These were significantly associated with a high odds ratio (P = 0.0027; OR 8.97, 95% CI 1.8-51.9). We conclude that NRXN1 deletions affecting exons confer risk of schizophrenia. © The Author 2008. Published by Oxford University Press. All rights reserved. link_to_OA_fulltext |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|