MAGI1 copy number variation in bipolar affective disorder and schizophrenia.
- Authors
- Karlsson, Robert; Graae, Lisette; Lekman, Magnus; Wang, Dai; Favis, Reyna; Axelsson, Tomas; Galter, Dagmar; Belin, Andrea Carmine; Paddock, Silvia
- Year
- 2012
- Journal
- Biological psychiatry
- PMID
- 22381734
- DOI
- 10.1016/j.biopsych.2012.01.020
BACKGROUND: Bipolar affective disorder (BPAD) and schizophrenia (SZ) are devastating psychiatric disorders that each affect about 1% of the population worldwide. Identification of new drug targets is an important step toward better treatment of these poorly understood diseases. METHODS: Genome-wide copy number variation (CNV) was assessed and variants were ranked by co-occurrence with disease in 48 BPAD families. Additional support for involvement of the highest-ranking CNV from the family-based analysis in psychiatric disease was obtained through analysis of 4084 samples with BPAD, SZ, or schizoaffective disorder. Finally, a pooled analysis of in-house and published datasets was carried out including 10,925 cases with BPAD, SZ, or schizoaffective disorder and 16,747 controls. RESULTS: In the family-based analysis, an approximately 200 kilobase (kb) deletion in the first intron of the MAGI1 gene was identified that segregated with BPAD in a pedigree (six out of six affected individuals; parametric logarithm of the odds score = 1.14). In the pooled analysis, seven additional insertions or deletions over 100 kb were identified in MAGI1 in cases, while only two such CNV events were identified in the same gene in controls (p = .023; Fisher's exact test). Because earlier work had identified a CNV in the close relative MAGI2 in SZ, the study was extended to include MAGI2. In the pooled analysis of MAGI2, two large deletions were found in cases, and two duplications were detected in controls. CONCLUSIONS: Results presented herein provide further evidence for a role of MAGI1 and MAGI2 in BPAD and SZ etiology.
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External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Differences and similarities between the genetic architecture of lifetime substance use across different substances. | Bright U et al. | β | 2025 | β |
| Epigenetics, human imprintome, and chronic diseases. | Jirtle RL | β | 2025 | β |
| A Potential Role for MAGI-1 in the Bi-Directional Relationship Between Major Depressive Disorder and Cardiovascular Disease. | Banerjee P et al. | β | 2024 | β |
| Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders. | Ito H et al. | β | 2022 | β |
| Identification of Key Genes and Biological Pathways in Bipolar Disorder by Bioinformatics and Next Generation Sequencing Data Analysis | Vastrad B et al. | β | 2022 | β |
| S-SCAM inhibits Axin-dependent synaptic function of GSK3Ξ² in a sex-dependent manner. | Kearney G et al. | β | 2022 | β |
| The association of personality polygenic risk score, psychosocial protective factors and suicide attempt in mood disorder. | Su MH et al. | β | 2022 | β |
| MAGI1, a Scaffold Protein with Tumor Suppressive and Vascular Functions. | WΓΆrthmΓΌller J et al. | β | 2021 | β |
| Aberrant expression of S-SCAM causes the loss of GABAergic synapses in hippocampal neurons. | Shin SM et al. | β | 2020 | β |
| A Peptide Link Between Human Cytomegalovirus Infection, Neuronal Migration, and Psychosis. | Lucchese G et al. | β | 2020 | β |
| MAGI-2 downregulation: a potential predictor of tumor progression and early recurrence in Han Chinese patients with prostate cancer. | Cao Z et al. | β | 2020 | β |
| Novel phospho-switch function of delta-catenin in dendrite development. | Baumert R et al. | β | 2020 | β |
| Genome-wide association study on antipsychotic-induced weight gain in Europeans and African-Americans. | Maciukiewicz M et al. | β | 2019 | β |
| Horizontal and vertical integrative analysis methods for mental disorders omics data. | Wang S et al. | β | 2019 | β |
| Magi-1 scaffolds Na<sub>V</sub>1.8 and Slack K<sub>Na</sub> channels in dorsal root ganglion neurons regulating excitability and pain. | Pryce KD et al. | β | 2019 | β |
| Temporal dynamics of miRNAs in human DLPFC and its association with miRNA dysregulation in schizophrenia. | Hu Z et al. | β | 2019 | β |
| Clinical significance of germline copy number variation in susceptibility of human diseases. | Hu L et al. | β | 2018 | β |
| Genetic predictors of antipsychotic response to lurasidone identified in a genome wide association study and by schizophrenia risk genes. | Li J et al. | β | 2018 | β |
| Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations. | Luo J et al. | β | 2018 | β |
| The genetics of human personality. | Sanchez-Roige S et al. | β | 2018 | β |
| Modeling prior information of common genetic variants improves gene discovery for neuroticism. | Lo MT et al. | β | 2017 | β |
| Exome Sequence Data From Multigenerational Families Implicate AMPA Receptor Trafficking in Neurocognitive Impairment and Schizophrenia Risk. | Kos MZ et al. | β | 2016 | β |
| Molecular genetic approaches to understanding the comorbidity of psychiatric disorders. | Gizer IR | β | 2016 | β |
| 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases. | de la Hoz AB et al. | β | 2015 | β |
| A novel relationship for schizophrenia, bipolar and major depressive disorder Part 7: A hint from chromosome 7 high density association screen. | Chen X et al. | β | 2015 | β |
| A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. | Lekman M et al. | β | 2015 | β |
| Genomic structural variation in affective, anxiety, and stress-related disorders. | Ono S et al. | β | 2015 | β |
| MAGI2/S-SCAM outside brain. | Nagashima S et al. | β | 2015 | β |
| Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. | Genetics of Personality Consortium et al. | β | 2015 | β |
| S-SCAM, a rare copy number variation gene, induces schizophrenia-related endophenotypes in transgenic mouse model. | Zhang N et al. | β | 2015 | β |
| 3p interstitial deletion including PRICKLE2 in identical twins with autistic features. | Okumura A et al. | β | 2014 | β |
| Copy number variants are produced in response to low-dose ionizing radiation in cultured cells. | Arlt MF et al. | β | 2014 | β |
| Correspondence between fMRI and SNP data by group sparse canonical correlation analysis. | Lin D et al. | β | 2014 | β |
| Genomics approaches to study musical aptitude. | Oikkonen J et al. | β | 2014 | β |
| Identifying Potential Regions of Copy Number Variation for Bipolar Disorder. | Chen YH et al. | β | 2014 | β |
| Investigating the genetic variation underlying episodicity in major depressive disorder: suggestive evidence for a bipolar contribution. | Ferentinos P et al. | β | 2014 | β |
| Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music. | Ukkola-Vuoti L et al. | β | 2013 | β |
| MAGI-1 acts as a scaffolding molecule for NGF receptor-mediated signaling pathway. | Ito H et al. | β | 2013 | β |