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Disruption of the neurexin 1 gene is associated with schizophrenia.
- Source :
-
Human molecular genetics [Hum Mol Genet] 2009 Mar 01; Vol. 18 (5), pp. 988-96. Date of Electronic Publication: 2008 Oct 22. - Publication Year :
- 2009
-
Abstract
- 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.
- Subjects :
- Adolescent
Adult
Calcium-Binding Proteins
Case-Control Studies
Cell Adhesion Molecules, Neuronal
Exons
Female
Gene Deletion
Gene Dosage
Gene Duplication
Genetic Predisposition to Disease
Humans
Male
Neural Cell Adhesion Molecules
White People genetics
Young Adult
Gene Silencing
Nerve Tissue Proteins genetics
Schizophrenia genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1460-2083
- Volume :
- 18
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Human molecular genetics
- Publication Type :
- Academic Journal
- Accession number :
- 18945720
- Full Text :
- https://doi.org/10.1093/hmg/ddn351