New copy number variations in schizophrenia

PLoS ONE

Volumn 5, Issue 10, 2010, Pages

  Magri, Chiara ^a   Sacchetti, Emilio ^a,b,c   Traversa, Michele ^a   Valsecchi, Paolo ^a,b   Gardella, Rita ^a   Bonvicini, Cristian ^d   Minelli, Alessandra ^d   Gennarelli, Massimo ^a,d   Barlati, Sergio ^a,c  

^a UNIVERSITY OF BRESCIA   (Italy)

^b Brescia Spedali Civili ^*  (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

^d IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NEUREXIN; NEUREXIN 1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; SCHIZOPHRENIA; CASE CONTROL STUDY; CHROMOSOME MAP; GENE DOSAGE; GENETIC PREDISPOSITION; GENETICS;

CASE-CONTROL STUDIES; CHROMOSOME MAPPING; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; SCHIZOPHRENIA;

EID: 78149436172     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0013422     Document Type: Article

References (37)

1. Conrad DF, Jakobsson M, Coop G, Wen X, Wall JD, et al. (2006) A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet 38: 1251-1260.
2. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
3. de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, et al. (2005) Diagnostic genome profiling in mental retardation. Am J Hum Genet 77: 606-616.
4. Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, et al. (2007) Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 81: 768-779.
5. Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, et al. (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82: 150-159.
6. Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, et al. (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82: 199-207.
7. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477-488.
8. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
9. Kirov G (2010) The role of copy number variation in schizophrenia. Expert Rev Neurother 10: 25-32.
10. Tam GW, Redon R, Carter NP, Grant SG (2009) The role of DNA copy number variation in schizophrenia. Biol Psychiatry 66: 1005-1012.
11. ISC (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
12. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al. (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543.
13. Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, et al. (2009) Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 18: 1497-1503.
14. Need AC, Ge D, Weale ME, Maia J, Feng S, et al. (2009) A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 5: e1000373.
15. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, et al. (2010) Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet 153B: 937-947.
16. Ikeda M, Aleksic B, Kirov G, Kinoshita Y, Yamanouchi Y, et al. (2010) Copy number variation in schizophrenia in the Japanese population. Biol Psychiatry 67: 283-286.
17. Kirov G, Gumus D, Chen W, Norton N, Georgieva L, et al. (2008) Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 17: 458-465.
18. Rujescu D, Ingason A, Cichon S, Pietilainen OP, Barnes MR, et al. (2009) Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 18: 988-996.
19. Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, et al. (2008) Large recurrent microdeletions associated with schizophrenia. Nature 455: 232-236.
20. Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Sabatti C, et al. (2008) Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 83: 504-510.
21. Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, et al. (2008) Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40: 880-885.
22. Bassett AS, Scherer SW, Brzustowicz LM (2010) Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 167: 899-914.
23. Sato J, Shimazu D, Yamamoto N, Nishikawa T (2008) An association analysis of synapse-associated protein 97 (SAP97) gene in schizophrenia. J Neural Transm 115: 1355-1365.
24. Masuda T, Kai N, Sakuma C, Kobayashi K, Koga H, et al. (2009) Laser capture microdissection and cDNA array analysis for identification of mouse KIAA/FLJ genes differentially expressed in the embryonic dorsal spinal cord. Brain Res 1249: 61-67.
25. Choi EY, Chavakis E, Czabanka MA, Langer HF, Fraemohs L, et al. (2008) Del-1, an endogenous leukocyte-endothelial adhesion inhibitor, limits inflammatory cell recruitment. Science 322: 1101-1104.
26. Lau WL, Scholnick SB (2003) Identification of two new members of the CSMD gene family small star, filled. Genomics 82: 412-415.
27. Shimizu A, Asakawa S, Sasaki T, Yamazaki S, Yamagata H, et al. (2003) A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. Biochem Biophys Res Commun 309: 143-154.
28. Floris C, Rassu S, Boccone L, Gasperini D, Cao A, et al. (2008) Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. Eur J Hum Genet 16: 696-704.
29. Yamamoto S, Oka S, Inoue M, Shimuta M, Manabe T, et al. (2002) Mice deficient in nervous system-specific carbohydrate epitope HNK-1 exhibit impaired synaptic plasticity and spatial learning. J Biol Chem 277: 27227-27231.
30. Goto Y, Yang CR, Otani S (2010) Functional and dysfunctional synaptic plasticity in prefrontal cortex: roles in psychiatric disorders. Biol Psychiatry 67: 199-207.
31. Jeffries AR, Mungall AJ, Dawson E, Halls K, Langford CF, et al. (2003) beta- 1,3-Glucuronyltransferase-1 gene implicated as a candidate for a schizophrenialike psychosis through molecular analysis of a balanced translocation. Mol Psychiatry 8: 654-663.
32. Bonvicini C, Gennarelli M, Scassellati C, Bignotti S, Gardella R, et al. (2010) Polymorphic CA repeat in IGF-I gene: lack of association with schizophrenia. Psychiatr Genet 20: 44-45.
33. Sacchetti E, Bocchio-Chiavetto L, Valsecchi P, Scassellati C, Pasqualetti P, et al. (2007) -G308A tumor necrosis factor alpha functional polymorphism and schizophrenia risk: meta-analysis plus association study. Brain Behav Immun 21: 450-457.
34. APS (2000) Diagnostic and statistical manual disorders, fourth edition, text revision. Washington, DC: American Psychiatric Association.
35. First MB, Spitzer RL, Gibbon M, Williams JBW (1996) Structural clinical interview for DSM-IV Axis I disorders, clinician version (SCID-CV). Washington, DC: American Psychiatric Press.
36. Nurnberger JI, Jr., Blehar MC, Kaufmann CA, York-Cooler C, Simpson SG, et al. (1994) Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry 51: 849-859; discussion 863-844.
37. Barlati S, Chiesa S, Magri C (2009) "GenotypeColour": colour visualisation of SNPs and CNVs. BMC Bioinformatics 10: 49.