Copy number variations of chromosome 16p13.1 region associated with schizophrenia
| Autor: | Ingason, A., Rujescu, D., Sigurdsson, E., Sigmundsson, T., Pietilainen, O.P., Buizer-Voskamp, J.E., Strengman, E., Francks, C., Muglia, P., Gylfason, A., Gustafsson, O., Olason, P.I., Steinberg, S., Hansen, T., Jakobsen, K.D., Rasmussen, H.B., Giegling, I., Moller, H.J., Hartmann, A., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Bramon, E., Kiemeney, L.A., Franke, B., Murray, R., Vassos, E., Toulopoulou, T., Muhleisen, T.W., Tosato, S., Ruggeri, M., Djurovic, S., Andreassen, O.A., Zhang, Z., Werge, T., Ophoff, R.A., Bruggeman, R., Cahn, W., de Haan, L., Kahn, R., Krabbendam, L., Linzen, D., Myin-Germeys, I., van Os, J., Wiersma, D., Rietschel, M., Nothen, M.M., Petursson, H., Stefansson, H., Peltonen, L., Collier, D., Stefansson, K., Clair, D.M. |
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| Přispěvatelé: | Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, Educational Neuroscience, Clinical Child and Family Studies, LEARN! - Brain, learning and development, Other departments, ANS - Amsterdam Neuroscience, Adult Psychiatry |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Psychosis Adolescent DNA Copy Number Variations CNV Locus (genetics) Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3] Biology Article Genomic disorders and inherited multi-system disorders [IGMD 3] 03 medical and health sciences Cellular and Molecular Neuroscience DISC1 Young Adult 0302 clinical medicine Segmental Duplications Genomic Reference Values Gene duplication mental disorders medicine Humans Copy-number variation Child Molecular Biology Molecular epidemiology Aetiology screening and detection [NCEBP 1] 030304 developmental biology Segmental duplication Sequence Deletion Genetics Chromosome Aberrations 0303 health sciences 16p13.1 schizophrenia duplication Chromosome Mapping Low copy repeats medicine.disease Psychiatry and Mental health Case-Control Studies biology.protein Autism Female Functional Neurogenomics [DCN 2] 030217 neurology & neurosurgery Chromosomes Human Pair 16 |
| Zdroj: | Molecular Psychiatry Molecular Psychiatry, 16(1), 17-25. Nature Publishing Group Molecular Psychiatry; Vol 16 Molecular Psychiatry, 16, 1, pp. 17-25 Molecular Psychiatry, 16, 17-25 Molecular Psychiatry, 16, 17-25. Nature Publishing Group Molecular psychiatry, 16(1), 17-25. Nature Publishing Group Ingason, A, Rujescu, D, Sigurdsson, E, Sigmundsson, T, Pietilainen, O P, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, T, Jakobsen, K D, Rasmussen, H B, Giegling, I, Moller, H J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Muhleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Bruggeman, R, Cahn, W, de Haan, L, Kahn, R, Krabbendam, L, Linzen, D, Myin-Germeys, I, van Os, J, Wiersma, D, Rietschel, M, Nothen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K & Clair, D M 2011, ' Copy number variations of chromosome 16p13.1 region associated with schizophrenia ', Molecular Psychiatry, vol. 16, pp. 17-25 . https://doi.org/10.1038/mp.2009.101 |
| ISSN: | 1359-4184 |
| Popis: | Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35 079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P0.007) and deletions in 0.12 % of cases and 0.04% of controls (P0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia. © 2011 Macmillan Publishers Limited All rights reserved. link_to_OA_fulltext |
| Databáze: | OpenAIRE |
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