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Volumn 12, Issue 3, 2012, Pages 261-266

Schizophrenia genetics: Putting all the pieces together

Author keywords

CNV; Copy number variation; De novo; Genetics; Genome wide association study; Genomics; GWAS; Linkage studies; Mental disorder; Next generation sequencing; Psychiatric disorder; Schizophrenia; Sequencing

Indexed keywords

DYSBINDIN;

EID: 84861230310     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-012-0266-7     Document Type: Review
Times cited : (31)

References (52)
  • 1
    • 68949180394 scopus 로고    scopus 로고
    • Schizophrenia
    • van Os J, Kapur S. Schizophrenia. Lancet. 2009;374(9690):635-45.
    • (2009) Lancet , vol.374 , Issue.9690 , pp. 635-645
    • Van Os, J.1    Kapur, S.2
  • 2
    • 0342765523 scopus 로고
    • Schizophrenia in Finnish male twins
    • Lader MH, editor
    • Tienari P. Schizophrenia in Finnish male twins. In: Lader MH, editor. Studies of schizophrenia. 1975. pp. 29-35.
    • (1975) Studies of Schizophrenia , pp. 29-35
    • Tienari, P.1
  • 3
    • 0014574168 scopus 로고
    • A Danish twin study of schizophrenia
    • Fischer M, Harvald B, Hauge M. A Danish twin study of schizophrenia. Br J Psychiatry. 1969;115(526):981-90.
    • (1969) Br J Psychiatry , vol.115 , Issue.526 , pp. 981-990
    • Fischer, M.1    Harvald, B.2    Hauge, M.3
  • 4
    • 0021017348 scopus 로고
    • Schizophrenia in the National Academy of Sciences-National Research Council Twin Registry: A 16-year update
    • Kendler KS, Robinette CD. Schizophrenia in the National Academy of Sciences-National Research Council Twin Registry: a 16-year update. Am J Psychiatry. 1983;140(12):1551-63. (Pubitemid 14202719)
    • (1983) American Journal of Psychiatry , vol.140 , Issue.12 , pp. 1551-1563
    • Kendler, K.S.1    Robinette, C.D.2
  • 6
    • 0031939076 scopus 로고    scopus 로고
    • The genetic epidemiology of schizophrenia in a Finnish twin cohort: A population-based modeling study
    • DOI 10.1001/archpsyc.55.1.67
    • Cannon TD, Kaprio J, Lönnqvist J, Huttunen M, Koskenvuo M. The genetic epidemiology of schizophrenia in a Finnish twin cohort. A population-based modeling study. Arch Gen Psychiatry. 1998;55(1):67-74. (Pubitemid 28069041)
    • (1998) Archives of General Psychiatry , vol.55 , Issue.1 , pp. 67-74
    • Cannon, T.D.1    Kaprio, J.2    Lonnqvist, J.3    Huttunen, M.4    Koskenvuo, M.5
  • 8
    • 0344305525 scopus 로고    scopus 로고
    • Schizophrenia as a Complex Trait: Evidence from a Meta-analysis of Twin Studies
    • DOI 10.1001/archpsyc.60.12.1187
    • Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry. 2003;60(12):1187-92. (Pubitemid 37494071)
    • (2003) Archives of General Psychiatry , vol.60 , Issue.12 , pp. 1187-1192
    • Sullivan, P.F.1    Kendler, K.S.2    Neale, M.C.3
  • 9
    • 3242791077 scopus 로고    scopus 로고
    • Linkage studies of schizophrenia
    • Riley B. Linkage studies of schizophrenia. Neurotox Res. 2004;6 (1):17-34.
    • (2004) Neurotox Res , vol.6 , Issue.1 , pp. 17-34
    • Riley, B.1
  • 12
    • 20144388107 scopus 로고    scopus 로고
    • Support for involvement of neuregulin 1 in schizophrenia pathophysiology
    • 328
    • Petryshen TL, Middleton FA, Kirby A, et al. Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Mol Psychiatry. 2005;10(4):366-74. 328.
    • (2005) Mol Psychiatry , vol.10 , Issue.4 , pp. 366-374
    • Petryshen, T.L.1    Middleton, F.A.2    Kirby, A.3
  • 13
    • 77950430421 scopus 로고    scopus 로고
    • Disrupted-in-Schizophrenia-1 expression is regulated by beta-site amyloid precursor protein cleaving enzyme-1-neuregulin cascade
    • Seshadri S, Kamiya A,Yokota Y, et al.Disrupted-in-Schizophrenia-1 expression is regulated by beta-site amyloid precursor protein cleaving enzyme-1-neuregulin cascade. Proc Natl Acad Sci U S A. 2010;107(12):5622-7.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.12 , pp. 5622-5627
    • Seshadri, S.1    Kamiya Ayokota, Y.2
  • 14
    • 25144520082 scopus 로고    scopus 로고
    • Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression
    • DOI 10.1093/hmg/ddi199
    • Bray NJ, Preece A, Williams NM, et al. Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression. Hum Mol Genet. 2005;14(14):1947-54. (Pubitemid 41418031)
    • (2005) Human Molecular Genetics , vol.14 , Issue.14 , pp. 1947-1954
    • Bray, N.J.1    Preece, A.2    Williams, N.M.3    Moskvina, V.4    Buckland, P.R.5    Owen, M.J.6    O'Donovan, M.C.7
  • 15
    • 0034927864 scopus 로고    scopus 로고
    • Schizophrenia and affective disorders - Cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: Clinical and P300 findings in a family
    • DOI 10.1086/321969
    • Blackwood DH, Fordyce A, Walker MT, et al. Schizophrenia and affective disorders-cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet. 2001;69(2):428-33. (Pubitemid 32695214)
    • (2001) American Journal of Human Genetics , vol.69 , Issue.2 , pp. 428-433
    • Blackwood, D.H.R.1    Fordyce, A.2    Walker, M.T.3    St Clair, D.M.4    Porteous, D.J.5    Muir, W.J.6
  • 17
    • 70350459011 scopus 로고    scopus 로고
    • Understanding the role of DISC1 in psychiatric disease and during normal development
    • Brandon NJ, Millar JK, Korth C, et al. Understanding the role of DISC1 in psychiatric disease and during normal development. J Neurosci. 2009;29(41):12768-75.
    • (2009) J Neurosci , vol.29 , Issue.41 , pp. 12768-12775
    • Brandon, N.J.1    Millar, J.K.2    Korth, C.3
  • 18
    • 60749112924 scopus 로고    scopus 로고
    • Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population
    • Betcheva ET, Mushiroda T, Takahashi A, et al. Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population. J Hum Genet. 2009;54(2):98-107.
    • (2009) J Hum Genet , vol.54 , Issue.2 , pp. 98-107
    • Betcheva, E.T.1    Mushiroda, T.2    Takahashi, A.3
  • 19
    • 40149105889 scopus 로고    scopus 로고
    • Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women
    • Shifman S, Johannesson M, Bronstein M, et al. Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet. 2008;4(2):e28.
    • (2008) PLoS Genet , vol.4 , Issue.2
    • Shifman, S.1    Johannesson, M.2    Bronstein, M.3
  • 20
    • 67651180973 scopus 로고    scopus 로고
    • A genome-wide association study in 574 schizophrenia trios using DNA pooling
    • Kirov G, Zaharieva I, Georgieva L, et al. A genome-wide association study in 574 schizophrenia trios using DNA pooling. Mol Psychiatry. 2009;14(8):796-803.
    • (2009) Mol Psychiatry , vol.14 , Issue.8 , pp. 796-803
    • Kirov, G.1    Zaharieva, I.2    Georgieva, L.3
  • 22
    • 50449100461 scopus 로고    scopus 로고
    • Identification of loci associated with schizophrenia by genome-wide association and follow-up
    • O'Donovan MC, Craddock N, Norton N, et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet. 2008;40(9):1053-5.
    • (2008) Nat Genet , vol.40 , Issue.9 , pp. 1053-1055
    • O'Donovan, M.C.1    Craddock, N.2    Norton, N.3
  • 23
    • 84947649726 scopus 로고    scopus 로고
    • Expanding the range of ZNF804A variants conferring risk of psychosis
    • Steinberg S, Mors O, Borglum AD, et al. Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry. 2010;16(1):59-66.
    • (2010) Mol Psychiatry , vol.16 , Issue.1 , pp. 59-66
    • Steinberg, S.1    Mors, O.2    Borglum, A.D.3
  • 24
    • 72949110176 scopus 로고    scopus 로고
    • Replication of association between schizophrenia and ZNF804A in the Irish Case-control Study of Schizophrenia sample
    • Riley B, Thiselton D, Maher BS, et al. Replication of association between schizophrenia and ZNF804A in the Irish Case-control Study of Schizophrenia sample. Mol Psychiatry. 2010;15(1):29-37.
    • (2010) Mol Psychiatry , vol.15 , Issue.1 , pp. 29-37
    • Riley, B.1    Thiselton, D.2    Maher, B.S.3
  • 25
    • 84856948704 scopus 로고    scopus 로고
    • Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion
    • Hill MJ, Jeffries AR, Dobson RJB, Price J, Bray NJ. Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion. Hum Mol Genet. 2011;21(5): 1018-24.
    • (2011) Hum Mol Genet , vol.21 , Issue.5 , pp. 1018-1024
    • Hill, M.J.1    Jeffries, A.R.2    Dobson, R.J.B.3    Price, J.4    Bray, N.J.5
  • 26
    • 68449090594 scopus 로고    scopus 로고
    • Common variants conferring risk of schizophrenia
    • Stefansson H, Ophoff RA, Steinberg S, et al. Common variants conferring risk of schizophrenia. Nature. 2009;460(7256):744-7.
    • (2009) Nature , vol.460 , Issue.7256 , pp. 744-747
    • Stefansson, H.1    Ophoff, R.A.2    Steinberg, S.3
  • 27
    • 68449086236 scopus 로고    scopus 로고
    • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
    • Purcell SM, Wray NR, Stone JL, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460(7256):748-52.
    • (2009) Nature , vol.460 , Issue.7256 , pp. 748-752
    • Purcell, S.M.1    Wray, N.R.2    Stone, J.L.3
  • 28
    • 77956925969 scopus 로고    scopus 로고
    • The potential role of major histocompatibility complex class i in schizophrenia
    • author reply e31
    • Handel AE, Ramagopalan SV. The potential role of major histocompatibility complex class I in schizophrenia. Biol Psychiatry. 2010;68(7):e29-30. author reply e31.
    • (2010) Biol Psychiatry , vol.68 , Issue.7
    • Handel, A.E.1    Ramagopalan, S.V.2
  • 29
    • 82255175590 scopus 로고    scopus 로고
    • Common variants on 8p12 and 1q24.2 confer risk of schizophrenia
    • Shi Y, Li Z, Xu Q, et al. Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. Nat Genet. 2011;43(12):1224-7.
    • (2011) Nat Genet , vol.43 , Issue.12 , pp. 1224-1227
    • Shi, Y.1    Li, Z.2    Xu, Q.3
  • 30
    • 82255175589 scopus 로고    scopus 로고
    • Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2
    • Yue W-H, Wang H-F, Sun L-D, et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nat Genet. 2011;43(12):1228-31.
    • (2011) Nat Genet , vol.43 , Issue.12 , pp. 1228-1231
    • Yue, W.-H.1    Wang, H.-F.2    Sun, L.-D.3
  • 31
    • 80053384370 scopus 로고    scopus 로고
    • Genome-wide association study identifies five new schizophrenia loci
    • Ripke S, Sanders AR, Kendler KS, et al. Genome-wide association study identifies five new schizophrenia loci. Nat Genet. 2011;43(10):969-76.
    • (2011) Nat Genet , vol.43 , Issue.10 , pp. 969-976
    • Ripke, S.1    Sanders, A.R.2    Kendler, K.S.3
  • 32
    • 77955723545 scopus 로고    scopus 로고
    • Epigenetic silencing of miR- 137 is an early event in colorectal carcinogenesis
    • Balaguer F, Link A, Lozano JJ, et al. Epigenetic silencing of miR- 137 is an early event in colorectal carcinogenesis. Cancer Res. 2010;70(16):6609-18.
    • (2010) Cancer Res , vol.70 , Issue.16 , pp. 6609-6618
    • Balaguer, F.1    Link, A.2    Lozano, J.J.3
  • 33
    • 78650539977 scopus 로고    scopus 로고
    • MiR-137 targets Cdc42 expression, induces cell cycle G1 arrest and inhibits invasion in colorectal cancer cells
    • Liu M, Lang N, Qiu M, et al. miR-137 targets Cdc42 expression, induces cell cycle G1 arrest and inhibits invasion in colorectal cancer cells. Int J Cancer. 2011;128(6):1269-79.
    • (2011) Int J Cancer , vol.128 , Issue.6 , pp. 1269-1279
    • Liu, M.1    Lang, N.2    Qiu, M.3
  • 34
    • 48949116262 scopus 로고    scopus 로고
    • MiR-124 and miR-137 inhibit proliferation of glioblastoma multiforme cells and induce differentiation of brain tumor stem cells
    • Silber J, Lim DA, Petritsch C, et al. miR-124 and miR-137 inhibit proliferation of glioblastoma multiforme cells and induce differentiation of brain tumor stem cells. BMC Med. 2008;6:14.
    • (2008) BMC Med , vol.6 , pp. 14
    • Silber, J.1    Lim, D.A.2    Petritsch, C.3
  • 35
    • 77956640572 scopus 로고    scopus 로고
    • MiRNA 34a, 100, and 137 modulate differentiation of mouse embryonic stem cells
    • Tarantino C, Paolella G, Cozzuto L, et al. miRNA 34a, 100, and 137 modulate differentiation of mouse embryonic stem cells. FASEB J. 2010;24(9):3255-63.
    • (2010) FASEB J , vol.24 , Issue.9 , pp. 3255-3263
    • Tarantino, C.1    Paolella, G.2    Cozzuto, L.3
  • 37
  • 38
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • Anon
    • Anon. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008;455(7210):237-41.
    • (2008) Nature , vol.455 , Issue.7210 , pp. 237-241
  • 39
    • 49949085933 scopus 로고    scopus 로고
    • Large recurrent microdeletions associated with schizophrenia
    • Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008;455 (7210):232-6.
    • (2008) Nature , vol.455 , Issue.7210 , pp. 232-236
    • Stefansson, H.1    Rujescu, D.2    Cichon, S.3
  • 40
    • 77955568656 scopus 로고    scopus 로고
    • Microdeletions of 3q29 confer high risk for schizophrenia
    • Mulle JG, Dodd AF, McGrath JA, et al. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet. 2010;87 (2):229-36.
    • (2010) Am J Hum Genet , vol.87 , Issue.2 , pp. 229-236
    • Mulle, J.G.1    Dodd, A.F.2    McGrath, J.A.3
  • 41
    • 70350626873 scopus 로고    scopus 로고
    • Microduplications of 16p11.2 are associated with schizophrenia
    • McCarthy SE, Makarov V, Kirov G, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009;41 (11):1223-7.
    • (2009) Nat Genet , vol.41 , Issue.11 , pp. 1223-1227
    • McCarthy, S.E.1    Makarov, V.2    Kirov, G.3
  • 42
    • 84947649513 scopus 로고    scopus 로고
    • Copy number variations of chromosome 16p13.1 region associated with schizophrenia
    • Ingason A, Rujescu D, Cichon S, et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry. 2009;16(1):17-25.
    • (2009) Mol Psychiatry , vol.16 , Issue.1 , pp. 17-25
    • Ingason, A.1    Rujescu, D.2    Cichon, S.3
  • 43
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • Craddock N, Hurles ME, Cardin N, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 2010;464(7289):713-20.
    • (2010) Nature , vol.464 , Issue.7289 , pp. 713-720
    • Craddock, N.1    Hurles, M.E.2    Cardin, N.3
  • 44
    • 84155191408 scopus 로고    scopus 로고
    • High frequencies of de novo CNVs in bipolar disorder and schizophrenia
    • Malhotra D, McCarthy S, Michaelson JJ, et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron. 2011;72(6):951-63.
    • (2011) Neuron , vol.72 , Issue.6 , pp. 951-963
    • Malhotra, D.1    McCarthy, S.2    Michaelson, J.J.3
  • 45
    • 77952374703 scopus 로고    scopus 로고
    • De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
    • Gauthier J, Champagne N, Lafreniere RG, et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A. 2010;107(17):7863-8.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.17 , pp. 7863-7868
    • Gauthier, J.1    Champagne, N.2    Lafreniere, R.G.3
  • 46
    • 77956943158 scopus 로고    scopus 로고
    • De novo truncating mutation in Kinesin 17 associated with schizophrenia
    • Tarabeux J, Champagne N, Brustein E, et al. De novo truncating mutation in Kinesin 17 associated with schizophrenia. Biol Psychiatry. 2010;68(7):649-56.
    • (2010) Biol Psychiatry , vol.68 , Issue.7 , pp. 649-656
    • Tarabeux, J.1    Champagne, N.2    Brustein, E.3
  • 47
    • 80054860297 scopus 로고    scopus 로고
    • Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
    • Gauthier J, Siddiqui TJ, Huashan P, et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet. 2011;130(4):563-73.
    • (2011) Hum Genet , vol.130 , Issue.4 , pp. 563-573
    • Gauthier, J.1    Siddiqui, T.J.2    Huashan, P.3
  • 48
    • 77956392692 scopus 로고    scopus 로고
    • Direct measure of the de novo mutation rate in autism and schizophrenia cohorts
    • Awadalla P, Gauthier J, Myers RA, et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet. 2010;87(3):316-24.
    • (2010) Am J Hum Genet , vol.87 , Issue.3 , pp. 316-324
    • Awadalla, P.1    Gauthier, J.2    Myers, R.A.3
  • 49
    • 80052269336 scopus 로고    scopus 로고
    • Increased exonic de novo mutation rate in individuals with schizophrenia
    • Girard SL, Gauthier J, Noreau A, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet. 2011;43(9):860-3.
    • (2011) Nat Genet , vol.43 , Issue.9 , pp. 860-863
    • Girard, S.L.1    Gauthier, J.2    Noreau, A.3
  • 50
    • 80052273655 scopus 로고    scopus 로고
    • Exome sequencing supports a de novo mutational paradigm for schizophrenia
    • Xu B, Roos JL, Dexheimer P, et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet. 2011;43(9):864-8.
    • (2011) Nat Genet , vol.43 , Issue.9 , pp. 864-868
    • Xu, B.1    Roos, J.L.2    Dexheimer, P.3
  • 51
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak BJ, Deriziotis P, Lee C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011;43(6):585-9.
    • (2011) Nat Genet , vol.43 , Issue.6 , pp. 585-589
    • O'Roak, B.J.1    Deriziotis, P.2    Lee, C.3
  • 52
    • 78649484216 scopus 로고    scopus 로고
    • A de novo paradigm for mental retardation
    • Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet. 2010;42(12):1109-12.
    • (2010) Nat Genet , vol.42 , Issue.12 , pp. 1109-1112
    • Vissers, L.E.1    De Ligt, J.2    Gilissen, C.3


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