首页|MAGI1 copy number variation in bipolar affective disorder and schizophrenia

MAGI1 copy number variation in bipolar affective disorder and schizophrenia

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  • NSTL
  • Elsevier
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.

Bipolar affective disordercopy number variationMAGI1MAGI2rare variantsschizophrenia

Axelsson,T.、Galter,D.、CarmineBelin,A.、Paddock,S.、Karlsson,R.、Graae,L.、Lekman,M.、Wang,D.、Favis,R.

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Department of Medical Sciences, Molecular Medicine, Uppsala University, Uppsala, Sweden

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden, Department of Medical

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden, Department of Clinical

Johnson and Johnson Pharmaceutical Research and Development LLC, Raritan, NJ, United States

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2012

10.1016/j.biopsych.2012.01.020

Biological psychiatry

Biological psychiatry

ISTP
ISSN：0006-3223
年,卷(期)：2012.71(10)
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