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Volumn 204, Issue 2, 2014, Pages 108-114

Analysis of copy number variations at 15 schizophrenia-associated loci

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL PATIENT; MICROARRAY ANALYSIS; MIDDLE AGED; PRADER WILLI SYNDROME; SCHIZOPHRENIA; VERY ELDERLY; YOUNG ADULT;

EID: 84893611579     PISSN: 00071250     EISSN: 14721465     Source Type: Journal    
DOI: 10.1192/bjp.bp.113.131052     Document Type: Article
Times cited : (310)

References (51)
  • 3
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993; 30: 813-7.
    • (1993) J Med Genet , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    McDonald-Mcginn, D.M.5    Zackai, E.H.6
  • 4
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen R, Goldberg R, Lewin M, Sidoti E, Berkman M, Argamaso R, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978; 15: 56-62.
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, R.1    Goldberg, R.2    Lewin, M.3    Sidoti, E.4    Berkman, M.5    Argamaso, R.6
  • 5
    • 84857236931 scopus 로고    scopus 로고
    • Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia
    • Grozeva D, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, et al. Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. Schizophr Res 2012; 135: 1-7.
    • (2012) Schizophr Res , vol.135 , pp. 1-7
    • Grozeva, D.1    Conrad, D.F.2    Barnes, C.P.3    Hurles, M.4    Owen, M.J.5    O'Donovan, M.C.6
  • 6
    • 79955145012 scopus 로고    scopus 로고
    • Maternally derived microduplications at 15q11-q13: Implication of imprinted genes in psychotic illness
    • Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, et al. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry 2011; 168: 408-17.
    • (2011) Am J Psychiatry , vol.168 , pp. 408-417
    • Ingason, A.1    Kirov, G.2    Giegling, I.3    Hansen, T.4    Isles, A.R.5    Jakobsen, K.D.6
  • 8
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium
    • International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455: 237-41.
    • (2008) Nature , vol.455 , pp. 237-241
  • 10
    • 79952710338 scopus 로고    scopus 로고
    • Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
    • Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 2011; 168: 302-16.
    • (2011) Am J Psychiatry , vol.168 , pp. 302-316
    • Levinson, D.F.1    Duan, J.2    Oh, S.3    Wang, K.4    Sanders, A.R.5    Shi, J.6
  • 14
    • 84858434210 scopus 로고    scopus 로고
    • CNVs: Harbingers of a rare variant revolution in psychiatric genetics
    • Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 2012; 148: 1223-41.
    • (2012) Cell , vol.148 , pp. 1223-1241
    • Malhotra, D.1    Sebat, J.2
  • 15
    • 84893789853 scopus 로고    scopus 로고
    • The penetrance of copy number variations for schizophrenia and developmental delay
    • August 27 (Epub ahead of print)
    • Kirov G, Rees E, Walters TJ, Escott-Price V, Georgieva L, Richards AL, et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry 2013; August 27 (Epub ahead of print).
    • (2013) Biol Psychiatry
    • Kirov, G.1    Rees, E.2    Walters, T.J.3    Escott-Price, V.4    Georgieva, L.5    Richards, A.L.6
  • 16
    • 84893798071 scopus 로고    scopus 로고
    • Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia
    • July 17 (Epub ahead of print)
    • Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, et al. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biol Psychiatry 2013; July 17 (Epub ahead of print).
    • (2013) Biol Psychiatry
    • Mulle, J.G.1    Pulver, A.E.2    McGrath, J.A.3    Wolyniec, P.S.4    Dodd, A.F.5    Cutler, D.J.6
  • 17
    • 79953057217 scopus 로고    scopus 로고
    • Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
    • Vacic V, McCarthy S, Malhotra D, Murray F, Chou H-H, Peoples A, et al. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 2011; 471: 499-503.
    • (2011) Nature , vol.471 , pp. 499-503
    • Vacic, V.1    McCarthy, S.2    Malhotra, D.3    Murray, F.4    Chou, H.-H.5    Peoples, A.6
  • 19
  • 21
    • 84878220679 scopus 로고    scopus 로고
    • Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC
    • Hamshere ML, Walters JTR, Smith R, Richards AL, Green E, Grozeva D, et al. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Mol Psychiatry 2012; 18: 708-12.
    • (2012) Mol Psychiatry , vol.18 , pp. 708-712
    • Hamshere, M.L.1    Walters, J.T.R.2    Smith, R.3    Richards, A.L.4    Green, E.5    Grozeva, D.6
  • 24
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17: 1665-74.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5    Grant, S.F.A.6
  • 26
    • 84856225986 scopus 로고    scopus 로고
    • De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
    • Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry 2012; 17: 142-53.
    • (2012) Mol Psychiatry , vol.17 , pp. 142-153
    • Kirov, G.1    Pocklington, A.J.2    Holmans, P.3    Ivanov, D.4    Ikeda, M.5    Ruderfer, D.6
  • 27
    • 81855178259 scopus 로고    scopus 로고
    • De novo rates and selection of schizophrenia-associated copy number variants
    • Rees E, Moskvina V, Owen MJ, O'Donovan MC, Kirov G. De novo rates and selection of schizophrenia-associated copy number variants. Biol Psychiatry 2011; 70: 1109-14.
    • (2011) Biol Psychiatry , vol.70 , pp. 1109-1114
    • Rees, E.1    Moskvina, V.2    Owen, M.J.3    O'Donovan, M.C.4    Kirov, G.5
  • 28
  • 29
    • 77955869501 scopus 로고    scopus 로고
    • A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications
    • Urraca N, Davis L, Cook EH, Schanen NC, Reiter LT. A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. Genet Test Mol Biomarkers 2010; 14: 571-6.
    • (2010) Genet Test Mol Biomarkers , vol.14 , pp. 571-576
    • Urraca, N.1    Davis, L.2    Cook, E.H.3    Schanen, N.C.4    Reiter, L.T.5
  • 30
    • 29144523507 scopus 로고    scopus 로고
    • Evaluation of diagnostic procedures in Swedish patients with schizophrenia and related psychoses
    • Ekholm B, Ekholm A, Adolfsson R, Vares M, Ösby U, Sedvall GC, et al. Evaluation of diagnostic procedures in Swedish patients with schizophrenia and related psychoses. Nord J Psychiatry 2005; 59: 457-64.
    • (2005) Nord J Psychiatry , vol.59 , pp. 457-464
    • Ekholm, B.1    Ekholm, A.2    Adolfsson, R.3    Vares, M.4    Ösby, U.5    Sedvall, G.C.6
  • 32
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel CGF, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010; 133: 23-32.
    • (2010) Brain , vol.133 , pp. 23-32
    • De Kovel, C.G.F.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5    Leu, C.6
  • 33
    • 70350774172 scopus 로고    scopus 로고
    • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
    • Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009; 18: 3626-31.
    • (2009) Hum Mol Genet , vol.18 , pp. 3626-3631
    • Dibbens, L.M.1    Mullen, S.2    Helbig, I.3    Mefford, H.C.4    Bayly, M.A.5    Bellows, S.6
  • 34
    • 2942668448 scopus 로고    scopus 로고
    • Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease
    • Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res 2004; 94: 1429-35.
    • (2004) Circ Res , vol.94 , pp. 1429-1435
    • Christiansen, J.1    Dyck, J.D.2    Elyas, B.G.3    Lilley, M.4    Bamforth, J.S.5    Hicks, M.6
  • 35
    • 0038419517 scopus 로고    scopus 로고
    • A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
    • Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003; 112: 101-7.
    • (2003) Pediatrics , vol.112 , pp. 101-107
    • Botto, L.D.1    May, K.2    Fernhoff, P.M.3    Correa, A.4    Coleman, K.5    Rasmussen, S.A.6
  • 36
    • 78049303903 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: A genome-wide analysis
    • Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, et al. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 2010; 376: 1401-8.
    • (2010) Lancet , vol.376 , pp. 1401-1408
    • Williams, N.M.1    Zaharieva, I.2    Martin, A.3    Langley, K.4    Mantripragada, K.5    Fossdal, R.6
  • 37
    • 76349083132 scopus 로고    scopus 로고
    • Large, rare chromosomal deletions associated with severe early-onset obesity
    • Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010; 463: 666-70.
    • (2010) Nature , vol.463 , pp. 666-670
    • Bochukova, E.G.1    Huang, N.2    Keogh, J.3    Henning, E.4    Purmann, C.5    Blaszczyk, K.6
  • 39
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • Südhof TC. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 2008; 455: 903-11.
    • (2008) Nature , vol.455 , pp. 903-911
    • Südhof, T.C.1
  • 40
    • 38349106160 scopus 로고    scopus 로고
    • Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
    • Kirov G, Gumus D, Chen W, Norton N, Georgieva L, Sari M, et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 2008; 17: 458-65.
    • (2008) Hum Mol Genet , vol.17 , pp. 458-465
    • Kirov, G.1    Gumus, D.2    Chen, W.3    Norton, N.4    Georgieva, L.5    Sari, M.6
  • 41
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 569-73.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3    Korvatska, O.4    Kim, C.E.5    Wood, S.6
  • 42
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011; 70: 863-85.
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3    Luo, R.4    Murtha, M.T.5    Moreno-De-Luca, D.6
  • 43
    • 35549001312 scopus 로고    scopus 로고
    • Genomic imprinting effects on brain development and function
    • Wilkinson LS, Davies W, Isles AR. Genomic imprinting effects on brain development and function. Nat Rev Neurosci 2007; 8: 832-43.
    • (2007) Nat Rev Neurosci , vol.8 , pp. 832-843
    • Wilkinson, L.S.1    Davies, W.2    Isles, A.R.3
  • 45
    • 84878965717 scopus 로고    scopus 로고
    • The unexpected role of copy number variations in juvenile myoclonic epilepsy
    • Helbig I, Hartmann C, Mefford HC. The unexpected role of copy number variations in juvenile myoclonic epilepsy. Epilepsy Behav 2013; 28 (suppl 1): S66-8.
    • (2013) Epilepsy Behav , vol.28 , Issue.SUPPL. 1
    • Helbig, I.1    Hartmann, C.2    Mefford, H.C.3
  • 46
    • 78049237730 scopus 로고    scopus 로고
    • Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
    • Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, et al. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med 2010; 12: 641-7.
    • (2010) Genet Med , vol.12 , pp. 641-647
    • Bachmann-Gagescu, R.1    Mefford, H.C.2    Cowan, C.3    Glew, G.M.4    Hing, A.V.5    Wallace, S.6
  • 48
    • 77953731103 scopus 로고    scopus 로고
    • Psychiatrists' attitude towards and knowledge of clozapine treatment
    • Nielsen J, Dahm M, Lublin H, Taylor D. Psychiatrists' attitude towards and knowledge of clozapine treatment. J Psychopharmacol 2010; 24: 965-71.
    • (2010) J Psychopharmacol , vol.24 , pp. 965-971
    • Nielsen, J.1    Dahm, M.2    Lublin, H.3    Taylor, D.4
  • 50
    • 44149115417 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: 30 years of study
    • Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 2008; 14: 3-10.
    • (2008) Dev Disabil Res Rev , vol.14 , pp. 3-10
    • Shprintzen, R.J.1
  • 51
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685-99.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3    Itsara, A.4    Jiang, Z.5    Buysse, K.6


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