MAGI1 copy number variation in bipolar affective disorder and schizophrenia

Biological Psychiatry

Volumn 71, Issue 10, 2012, Pages 922-930

  Karlsson, Robert ^a   Graae, Lisette ^a   Lekman, Magnus ^a   Wang, Dai ^b   Favis, Reyna ^b   Axelsson, Tomas ^c   Galter, Dagmar ^a   Carmine Belin, Andrea ^a   Paddock, Silvia ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b JOHNSON AND JOHNSON PHARMACEUTICAL RESEARCH AND DEVELOPMENT   (United States)

^c UPPSALA UNIVERSITY   (Sweden)

Author keywords

Bipolar affective disorder; copy number variation; MAGI1; MAGI2; rare variants; schizophrenia

Indexed keywords

ARTICLE; BIPOLAR DISORDER; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; INTRON; MAGI1 GENE; MAJOR CLINICAL STUDY; PEDIGREE; PRIORITY JOURNAL; SCHIZOAFFECTIVE PSYCHOSIS; SCHIZOPHRENIA;

BIPOLAR DISORDER; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELL ADHESION MOLECULES, NEURONAL; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; PSYCHOTIC DISORDERS; SCHIZOPHRENIA; SEQUENCE DELETION;

EID: 84862786888     PISSN: 00063223     EISSN: 18732402     Source Type: Journal    
DOI: 10.1016/j.biopsych.2012.01.020     Document Type: Article

References (45)

1. P. Lichtenstein, B.H. Yip, C. Bjrk, Y. Pawitan, T.D. Cannon, P.F. Sullivan, C.M. Hultman Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: A population-based study Lancet 373 2009 234 239
2. N. Craddock, M.J. Owen The Kraepelinian dichotomy - going, going... but still not gone Br J Psychiatry 196 2010 92 95
3. M.A.R. Ferreira, M.C. O'Donovan, Y.A. Meng, I.R. Jones, D.M. Ruderfer, L. Jones Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder Nat Genet 40 2008 1056 1058
4. L.J. Scott, P. Muglia, X.Q. Kong, W. Guan, M. Flickinger, R. Upmanyu Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry Proc Natl Acad Sci U S A 106 2009 7501 7506
5. J. Shi, D.F. Levinson, J. Duan, A.R. Sanders, Y. Zheng, I. Pe'er Common variants on chromosome 6p22.1 are associated with schizophrenia Nature 460 2009 753 757
6. H. Stefansson, R.A. Ophoff, S. Steinberg, O.A. Andreassen, S. Cichon, D. Rujescu Common variants conferring risk of schizophrenia Nature 460 2009 744 747
7. The International Schizophrenia Consortium Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Nature 460 2009 748 752
8. The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium Genome-wide association study identifies five new schizophrenia loci Nat Genet 43 2011 969 976
9. The International Schizophrenia Consortium Rare chromosomal deletions and duplications increase risk of schizophrenia Nature 455 2008 237 241
10. D. Zhang, L. Cheng, Y. Qian, N. Alliey-Rodriguez, J.R. Kelsoe, T. Greenwood Singleton deletions throughout the genome increase risk of bipolar disorder Mol Psychiatry 14 2008 376 380
11. D. Grozeva, G. Kirov, D. Ivanov, I.R. Jones, L. Jones, E.K. Green Rare copy number variants: A point of rarity in genetic risk for bipolar disorder and schizophrenia Arch Gen Psychiatry 67 2010 318 327
12. J. Ross, W. Berrettini, W. Coryell, E.S. Gershon, J.A. Badner, J.R. Kelsoe Genome-wide parametric linkage analyses of 644 bipolar pedigrees suggest susceptibility loci at chromosomes 16 and 20 Psychiatr Genet 18 2008 191 198
13. K. Wang, M. Li, D. Hadley, R. Liu, J. Glessner, S.F.A. Grant PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data Genome Res 17 2007 1665 1674
14. A.E. Dellinger, S.-M. Saw, L.K. Goh, M. Seielstad, T.L. Young, Y.-J. Li Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays Nucleic Acids Res 38 2010 e105
15. A.J. Iafrate, L. Feuk, M.N. Rivera, M.L. Listewnik, P.K. Donahoe, Y. Qi Detection of large-scale variation in the human genome Nat Genet 36 2004 949 951
16. D. Zhang, Y. Qian, N. Akula, N. Alliey-Rodriguez, J. Tang Bipolar Genome Study Accuracy of CNV detection from GWAS data PLoS ONE 6 2011 e14511
17. T. Walsh, J.M. McClellan, S.E. McCarthy, A.M. Addington, S.B. Pierce, G.M. Cooper Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia Science 320 2008 539 543
18. G. Kirov, D. Grozeva, N. Norton, D. Ivanov, K.K. Mantripragada, P. Holmans Support for the involvement of large copy number variants in the pathogenesis of schizophrenia Hum Mol Genet 18 2009 1497 1503
19. R Development Core Team R: A Language and Environment for Statistical Computing 2009 R Foundation for Statistical Computing Vienna
20. A. Kong, N.J. Cox Allele-sharing models: LOD scores and accurate linkage tests Am J Hum Genet 61 1997 1179 1188
21. G.R. Abecasis, S.S. Cherny, W.O.C. Cookson, L.R. Cardon GRR: Graphical representation of relationship errors Bioinformatics 17 2001 742 743
22. C.L. de Lara, I. Jaitovich-Groisman, C. Cruceanu, F. Mamdani, V. Lebel, V. Yerko Implication of synapse-related genes in bipolar disorder by linkage and gene expression analyses Int J Neuropsychopharmacol 13 2010 1397 1410
23. S. Cichon, J. Schumacher, D.J. Mller, M. Hrter, C. Windemuth, K. Strauch A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q Hum Mol Genet 10 2001 2933 2944
24. B. Etain, F. Mathieu, M. Rietschel, W. Maier, M. Albus, P. Mckeon Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: Supportive evidence for linkage at 3p14 Mol Psychiatry 11 2006 685 694
25. T. Venken, S. Claes, S. Sluijs, A.D. Paterson, C. van Duijn, R. Adolfsson Genomewide scan for affective disorder susceptibility loci in families of a northern Swedish isolated population Am J Hum Genet 76 2005 237 248
26. G.M. Cooper, B.P. Coe, S. Girirajan, J.A. Rosenfeld, T.H. Vu, C. Baker A copy number variation morbidity map of developmental delay Nat Genet 43 2011 838 846
27. D. Pinto, A.T. Pagnamenta, L. Klei, R. Anney, D. Merico, R. Regan Functional impact of global rare copy number variation in autism spectrum disorders Nature 466 2010 368 372
28. A. Ingason, D. Rujescu, S. Cichon, E. Sigurdsson, T. Sigmundsson, O.P.H. Pietilainen Copy number variations of chromosome 16p13.1 region associated with schizophrenia Mol Psychiatry 16 2011 17 25
29. G. Kirov, A.J. Pocklington, P. Holmans, D. Ivanov, M. Ikeda, D. Ruderfer De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia Mol Psychiatry 17 2012 142 153
30. F.B.L. Hogervorst, P.M. Nederlof, J.J.P. Gille, C.J. McElgunn, M. Grippeling, R. Pruntel Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method Cancer Res 63 2003 1449 1453
31. J. Iida, S. Hirabayashi, Y. Sato, Y. Hata Synaptic scaffolding molecule is involved in the synaptic clustering of neuroligin Mol Cell Neurosci 27 2004 497 508
32. W. Nishimura, I. Yao, J. Iida, N. Tanaka, Y. Hata Interaction of synaptic scaffolding molecule and beta-catenin J Neurosci 22 2002 757 765
33. J.D. Buxbaum, L. Georgieva, J.J. Young, C. Plescia, Y. Kajiwara, Y. Jiang Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene Mol Psychiatry 13 2007 162 172
34. L. Emtage, H. Chang, R. Tiver, C. Rongo MAGI-1 modulates AMPA receptor synaptic localization and behavioral plasticity in response to prior experience PLoS ONE 4 2009 e4613
35. G. Kirov, D. Gumus, W. Chen, N. Norton, L. Georgieva, M. Sari Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia Hum Mol Genet 17 2008 458 465
36. D. Rujescu, A. Ingason, S. Cichon, O.P.H. Pietilainen, M.R. Barnes, T. Toulopoulou Disruption of the neurexin 1 gene is associated with schizophrenia Hum Mol Genet 18 2009 988 996
37. L.S. Carroll, M.J. Owen Genetic overlap between autism, schizophrenia and bipolar disorder Genome Med 1 2009 102
38. R. Bachmann, R. Schloesser, T. Gould, H. Manji Mood stabilizers target cellular plasticity and resilience cascades Mol Neurobiol 32 2005 173 202
39. C. Kranjec, L. Banks A systematic analysis of human papillomavirus (HPV) E6 PDZ substrates identifies MAGI-1 as a major target of HPV type 16 (HPV-16) and HPV-18 whose loss accompanies disruption of tight junctions J Virol 85 2011 1757 1764
40. T. Paunio, R. Arajrvi, J.D. Terwilliger, T. Hiekkalinna, P. Haimi, T. Partonen Linkage analysis of schizophrenia controlling for population substructure Am J Med Genet B Neuropsychiatr Genet 150B 2009 827 835
41. J. Sebat, B. Lakshmi, J. Troge, J. Alexander, J. Young, P. Lundin Large-scale copy number polymorphism in the human genome Science 305 2004 525 528
42. A. Itsara, G.M. Cooper, C. Baker, S. Girirajan, J. Li, D. Absher Population analysis of large copy number variants and hotspots of human genetic disease Am J Hum Genet 84 2009 148 161
43. M. Uddin, M. Sturge, P. Rahman, M.O. Woods Autosome-wide copy number variation association analysis for rheumatoid arthritis using the WTCCC high-density SNP genotype data J Rheumatol 38 2011 797 801
44. D.F. Conrad, D. Pinto, R. Redon, L. Feuk, O. Gokcumen, Y. Zhang Origins and functional impact of copy number variation in the human genome Nature 464 2010 704 712
45. T.H. Shaikh, X. Gai, J.C. Perin, J.T. Glessner, H. Xie, K. Murphy High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications Genome Res 19 2009 1682 1690