دورية أكاديمية
Disruption of the neurexin 1 gene is associated with schizophrenia
| العنوان: | Disruption of the neurexin 1 gene is associated with schizophrenia |
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| المؤلفون: | Rujescu D., Ingason I., Cichon S., Pietiläinen Olli P. H., Barnes M. R., Toulopoulou T., Picchioni M., Vassos E., Bramon E., Murray R., Steinberg S., Sigurdsson E., Sigmundsson T., Petursson H., Gylfason A., Olason P. I., Hardarsson G., Jonsdottir G. A., Gustafsson O., Fossdal R., Giegling I., Möller H. J., Hartmann A., Hoffmann P., Crombie C., Fraser G., Walker N., Lonnqvist J., Suvisaari J., Tuulio Henriksson A., Andreassen O. A., Djurovic S., Hansen T., Werge T., Melle I., Kiemeney L. A., Franke B., Buizer Voskamp J. E., Ophoff R. A., GROUP Investigators, Rietschel M., Nöthen M. M., Stefansson K., Peltonen L., St Clair D., Stefansson H., Collier D. A., RUGGERI, Mirella, TOSATO, Sarah, BONETTO, Chiara |
| المساهمون: | Rujescu, D., Ingason, I., Cichon, S., Pietiläinen Olli, P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Bramon, E., Murray, R., Ruggeri, Mirella, Tosato, Sarah, Bonetto, Chiara, Steinberg, S., Sigurdsson, E., Sigmundsson, T., Petursson, H., Gylfason, A., Olason, P. I., Hardarsson, G., Jonsdottir, G. A., Gustafsson, O., Fossdal, R., Giegling, I., Möller, H. J., Hartmann, A., Hoffmann, P., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio Henriksson, A., Andreassen, O. A., Djurovic, S., Hansen, T., Werge, T., Melle, I., Kiemeney, L. A., Franke, B., Buizer Voskamp, J. E., Ophoff, R. A., Group, Investigator, Rietschel, M., Nöthen, M. M., Stefansson, K., Peltonen, L., St Clair, D., Stefansson, H., Collier, D. A. |
| سنة النشر: | 2009 |
| المجموعة: | Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) |
| مصطلحات موضوعية: | Adolescent, Adult, Case-Control Studie, European Continental Ancestry Group/genetic, Exon, Female, Gene Deletion, Gene Dosage, Gene Duplication, Gene Silencing, Genetic Predisposition to Disease, Human, Male, Nerve Tissue Proteins/*genetic, Schizophrenia/*genetic, Young Adult |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/18945720; info:eu-repo/semantics/altIdentifier/wos/WOS:000263409100017; volume:18; firstpage:988; lastpage:996; numberofpages:9; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11562/338650Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-60549106509 |
| DOI: | 10.1093/hmg/ddn351 |
| الإتاحة: | https://doi.org/10.1093/hmg/ddn351Test http://hdl.handle.net/11562/338650Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.E0C777BC |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/hmg/ddn351 |
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