This title appears in the Scientific Report :
2011
Please use the identifier:
http://dx.doi.org/10.1016/j.schres.2011.01.001 in citations.
Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients.
Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients.
Large rare deletions in NRXN1 increase the risk for schizophrenia. The aim of the present study was to determine whether small rare sequence changes in exons and splice sites contribute to the development of schizophrenia in a high-penetrance manner. Complete coding regions and splice sites were res...
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Personal Name(s): | Mühleisen, T.W. |
---|---|
Basmanav, F.T. / Forstner, A.J. / Mattheisen, M. / Priebe, L. / Herms, S. / Breuer, R. / Moebus, S. / Nenadic, I. / Sauer, H. / Mössner, R. / Maier, W. / Rujescu, D. / Ludwig, M. / Rietschel, M. / Nöthen, M.M. / Cichon, S. | |
Contributing Institute: |
Strukturelle und funktionelle Organisation des Gehirns; INM-1 |
Published in: | Schizophrenia research, 127 (2011) S. 34 - 40 |
Imprint: |
Amsterdam [u.a.]
Elsevier Science
2011
|
Physical Description: |
34 - 40 |
PubMed ID: |
21288692 |
DOI: |
10.1016/j.schres.2011.01.001 |
Document Type: |
Journal Article |
Research Program: |
Connectivity and Activity Funktion und Dysfunktion des Nervensystems |
Series Title: |
Schizophrenia Research
127 |
Subject (ZB): | |
Publikationsportal JuSER |
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700 | 1 | |0 P:(DE-HGF)0 |a Mattheisen, M. |b 3 | |
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520 | |a Large rare deletions in NRXN1 increase the risk for schizophrenia. The aim of the present study was to determine whether small rare sequence changes in exons and splice sites contribute to the development of schizophrenia in a high-penetrance manner. Complete coding regions and splice sites were resequenced in 94 patients and 94 controls. Among the 16 rare sequence variants, two missense substitutions (E201G and I1068V) were observed in single patients but not in controls. Investigation of DNA samples from family members and in silico analysis of possible effects on protein function produced no evidence of high-penetrance genetic effects. Follow-up genotyping of the most promising findings (E201G and I1068V) in an independent sample of >1400 patients and >1100 controls revealed no overrepresentation in patients compared to controls (E201G: 0/1 and I1068V: 0/0). Since I1068V was observed in a single patient, it is impossible to exclude the possibility that I1068V makes a minor contribution to schizophrenia susceptibility. Overall, however, the results do not suggest the existence of rare, highly penetrant NRXN1 mutations in patients with schizophrenia. | ||
653 | 2 | 0 | |2 Author |a Schizophrenia |
653 | 2 | 0 | |2 Author |a NRXN1 |
653 | 2 | 0 | |2 Author |a Resequencing |
653 | 2 | 0 | |2 Author |a Rare genetic variant |
650 | 2 | |2 MeSH |a Adult | |
650 | 2 | |2 MeSH |a Cell Adhesion Molecules, Neuronal: genetics | |
650 | 2 | |2 MeSH |a Computational Biology: methods | |
650 | 2 | |2 MeSH |a Exons: genetics | |
650 | 2 | |2 MeSH |a Female | |
650 | 2 | |2 MeSH |a Follow-Up Studies | |
650 | 2 | |2 MeSH |a Gene Frequency | |
650 | 2 | |2 MeSH |a Genetic Predisposition to Disease | |
650 | 2 | |2 MeSH |a Genome-Wide Association Study | |
650 | 2 | |2 MeSH |a Genotype | |
650 | 2 | |2 MeSH |a Humans | |
650 | 2 | |2 MeSH |a Male | |
650 | 2 | |2 MeSH |a Middle Aged | |
650 | 2 | |2 MeSH |a Models, Molecular | |
650 | 2 | |2 MeSH |a Mutation, Missense: genetics | |
650 | 2 | |2 MeSH |a Nerve Tissue Proteins: genetics | |
650 | 2 | |2 MeSH |a Schizophrenia: genetics | |
650 | 2 | |2 MeSH |a Schizophrenia: physiopathology | |
650 | 7 | |0 0 |2 NLM Chemicals |a Cell Adhesion Molecules, Neuronal | |
650 | 7 | |0 0 |2 NLM Chemicals |a NRXN1 protein, human | |
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500 | |a This study was supported by the German Federal Ministry of Education and Research (BMBF), within the context of the National Genome Research Network plus (NGFNplus), and the Integrated Genome Research Network (IG) MooDS (grant 01GS08144 to Sven Cichon and Markus M. Nothen, grant 01GS08147 to Marcella Rietschel). Markus M. Nothen also received support from the Alfried Krupp von Bohlen und Halbach-Stiftung. This study was partially supported by a grant from the European Union (EUTwinsS network; RTN, FP6, MRTN-CT-2006-035987), with F. Buket Basmanav as a Marie Curie Fellow and Markus M. Nothen, Sven Cichon, Heinrich Sauer, and Igor Nenadic as Pls. Andreas J. Forstner received support from the BONFOR program of the Medical Faculty of the University of Bonn. These funding sources had no involvement in the study design, the collection, analysis, and interpretation of data, the writing of the report, or the decision to submit the paper for publication. | ||
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