Schizophrenia: genes at last?
Tài liệu tham khảo
Owen, 2002, Schizophrenia, 247
Gottesman, 1967, A polygenic theory of schizophrenia, Proc. Natl. Acad. Sci. U. S. A., 58, 199, 10.1073/pnas.58.1.199
McGue, 1989, A single dominant gene still cannot account for the transmission of schizophrenia, Arch. Gen. Psychiatry, 46, 478, 10.1001/archpsyc.1989.01810050092016
Risch, 1990, Genetic linkage and complex diseases, with special reference to psychiatric disorders, Genet. Epidemiol., 7, 3, 10.1002/gepi.1370070103
Farmer, 1987, Twin concordance for DSM-III schizophrenia. Scrutinizing the validity of the definition, Arch. Gen. Psychiatry, 44, 634, 10.1001/archpsyc.1987.01800190054009
Kendler, 1995, Evaluating the spectrum concept of schizophrenia in the Roscommon family study, Am. J. Psychiatry, 152, 749, 10.1176/ajp.152.5.749
Kendler, 1998, The structure of psychosis: latent class analysis of probands from the Roscommon family study, Arch. Gen. Psychiatry, 55, 492, 10.1001/archpsyc.55.6.492
Tienari, 2000, Finnish adoptive family study: sample selection and adoptee DSM-III-R diagnoses, Acta Psychiatr. Scand., 101, 433, 10.1034/j.1600-0447.2000.101006433.x
Murray, 1987, Is schizophrenia a neurodevelopmental disorder?, Br. Med. J. (Clin. Res. Ed.), 295, 681, 10.1136/bmj.295.6600.681
Harrison, 1999, The neuropathology of schizophrenia. A critical review of the data and their interpretation, Brain, 122, 593, 10.1093/brain/122.4.593
Owen, 2004, The molecular genetics of schizophrenia: new findings promise new insights, Mol. Psychiatry, 9, 14, 10.1038/sj.mp.4001444
Suarez, 1994, Problems of replicating linkage claims in psychiatry, 23
Goring, 2001, Linkage analysis of quantitative traits in randomly ascertained pedigrees: comparison of penetrance-based and variance component analysis, Genet. Epidemiol., 21, S783, 10.1002/gepi.2001.21.s1.s783
O'Donovan, 1999, Candidate-gene association studies of schizophrenia, Am. J. Hum. Genet., 65, 587, 10.1086/302560
Vieland, 2001, The replication requirement, Nat. Genet., 29, 244, 10.1038/ng1101-244
Badner, 2002, Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia, Mol. Psychiatry, 7, 405, 10.1038/sj.mp.4001012
Lewis, 2003, Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: schizophrenia, Am. J. Hum. Genet., 73, 34, 10.1086/376549
Evans, 2004, Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps, Am. J. Hum. Genet., 75, 687, 10.1086/424696
Kirov, 2004, Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria, Biol. Psychiatry, 55, 971, 10.1016/j.biopsych.2004.01.025
Brzustowicz, 2004, Linkage disequilibrium mapping of schizophrenia susceptibility to the CAPON region of chromosome 1q22, Am. J. Hum. Genet., 74, 1057, 10.1086/420774
Gerber, 2003, Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit, Proc. Natl. Acad. Sci. U. S. A., 100, 8993, 10.1073/pnas.1432927100
Duan, 2004, Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia, Am. J. Hum. Genet., 75, 624, 10.1086/424887
Straub, 2002, Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia, Am. J. Hum. Genet., 71, 337, 10.1086/341750
Schwab, 2003, Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families, Am. J. Hum. Genet., 72, 185, 10.1086/345463
Williams, 2004, Identification in two independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1), Arch. Gen. Psychiatry, 61, 336, 10.1001/archpsyc.61.4.336
Van Den Bogaert, 2003, The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease, Am. J. Hum. Genet., 73, 1438, 10.1086/379928
Numakawa, 2004, Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia, Hum. Mol. Genet., 13, 2699, 10.1093/hmg/ddh280
Funke, 2004, Association of the DTNBP1 locus with schizophrenia in a U.S. population, Am. J. Hum. Genet., 75, 891, 10.1086/425279
Morris, 2003, No evidence for association of the dysbindin gene (DTNBP1) with schizophrenia in an Irish population-based study, Schizophr. Res., 60, 167, 10.1016/S0920-9964(02)00527-3
Bray, 2003, Cis-acting variation in the expression of a high proportion of genes in human brain, Hum. Genet., 113, 149, 10.1007/s00439-003-0956-y
Weickert, 2004, Human dysbindin (DTNBP1) gene expression in normal brain and in schizophrenic prefrontal cortex and midbrain, Arch. Gen. Psychiatry, 61, 544, 10.1001/archpsyc.61.6.544
Talbot, 2004, Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia, J. Clin. Invest., 113, 1353, 10.1172/JCI200420425
Benson, 2001, Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain, J. Biol. Chem., 276, 24232, 10.1074/jbc.M010418200
Stefansson, 2002, Neuregulin 1 and susceptibility to schizophrenia, Am. J. Hum. Genet., 71, 877, 10.1086/342734
Stefansson, 2003, Association of neuregulin 1 with schizophrenia confirmed in a Scottish population, Am. J. Hum. Genet., 72, 83, 10.1086/345442
Williams, 2003, Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia, Mol. Psychiatry, 8, 485, 10.1038/sj.mp.4001348
Corvin, 2004, Confirmation and refinement of an ‘at-risk’ haplotype for schizophrenia suggests the EST cluster, Hs.97362, as a potential susceptibility gene at the Neuregulin-1 locus, Mol. Psychiatry, 9, 208, 10.1038/sj.mp.4001412
Yang, 2003, Association study of neuregulin 1 gene with schizophrenia, Mol. Psychiatry, 8, 706, 10.1038/sj.mp.4001377
Tang, 2004, Polymorphisms within 5′ end of the Neuregulin 1 gene are genetically associated with schizophrenia in the Chinese population, Mol. Psychiatry, 9, 11, 10.1038/sj.mp.4001436
Zhao, 2004, A case control and family based association study of the neuregulin1 gene and schizophrenia, J. Med. Genet., 41, 31, 10.1136/jmg.2003.014977
Li, 2004, Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype, Mol. Psychiatry, 9, 698, 10.1038/sj.mp.4001485
Hall, 2004, The contribution of three strong candidate schizophrenia susceptibility genes in demographically distinct populations, Genes Brain Behav., 3, 240, 10.1111/j.1601-183X.2004.00078.x
Iwata, 2004, No association with the neuregulin 1 haplotype to Japanese schizophrenia, Mol. Psychiatry, 9, 126, 10.1038/sj.mp.4001456
Thiselton, 2004, No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF), Mol. Psychiatry, 9, 777, 10.1038/sj.mp.4001530
Hong, 2004, Case-control and family-based association studies between the neuregulin 1 (Arg38Gln) polymorphism and schizophrenia, Neurosci. Lett., 366, 158, 10.1016/j.neulet.2004.05.027
Stefansson, 2004, Neuregulin 1 and schizophrenia, Ann. Med., 36, 62, 10.1080/07853890310017585
Hashimoto, 2004, Expression analysis of neuregulin-1 in the dorsolateral prefrontal cortex in schizophrenia, Mol. Psychiatry, 9, 299, 10.1038/sj.mp.4001434
Corfas, 2004, Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia, Nat. Neurosci., 7, 575, 10.1038/nn1258
MacIntyre, 2003, Chromosomal abnormalities and mental illness, Mol. Psychiatry, 8, 275, 10.1038/sj.mp.4001232
Williams, 2004, Genetic abnormalities of chromosome 22 and the development of psychosis, Curr. Psychiatry Rep., 6, 176, 10.1007/s11920-004-0062-4
Murphy, 1999, High rates of schizophrenia in adults with velo-cardio-facial syndrome, Arch. Gen. Psychiatry, 56, 940, 10.1001/archpsyc.56.10.940
Ivanov, 2003, Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study, Br. J. Psychiatry, 183, 409, 10.1192/bjp.183.5.409
Blackwood, 2001, 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., 69, 428, 10.1086/321969
Millar, 2000, Disruption of two novel genes by a translocation co-segregating with schizophrenia, Hum. Mol. Genet., 9, 1415, 10.1093/hmg/9.9.1415
Ekelund, 2001, Chromosome 1 loci in Finnish schizophrenia families, Hum. Mol. Genet., 10, 1611, 10.1093/hmg/10.15.1611
Ekelund, 2004, Replication of 1q42 linkage in Finnish schizophrenia pedigrees, Mol. Psychiatry, 9, 1037, 10.1038/sj.mp.4001536
Miyoshi, 2003, Disrupted-In-Schizophrenia 1, a candidate gene for schizophrenia, participates in neurite outgrowth, Mol. Psychiatry, 8, 685, 10.1038/sj.mp.4001352
Ozeki, 2003, Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth, Proc. Natl. Acad. Sci. U. S. A., 100, 289, 10.1073/pnas.0136913100
Devon, 2001, Identification of polymorphisms within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder, Psychiatr. Genet., 11, 71, 10.1097/00041444-200106000-00003
Kockelkorn, 2004, Association study of polymorphisms in the 5′ upstream region of human DISC1 gene with schizophrenia, Neurosci. Lett., 368, 41, 10.1016/j.neulet.2004.06.048
Hennah, 2003, Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects, Hum. Mol. Genet., 12, 3151, 10.1093/hmg/ddg341
Hodgkinson, 2004, Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder, Am. J. Hum. Genet., 75, 862, 10.1086/425586
Sawamura, 2005, A form of DISC1 enriched in nucleus: altered subcellular distribution in orbitofrontal cortex in psychosis and substance/alcohol abuse, Proc. Natl. Acad. Sci. U. S. A., 102, 1187, 10.1073/pnas.0406543102
Craddock, 1999, Genetics of bipolar disorder, J. Med. Genet., 36, 585, 10.1136/jmg.36.8.585
Craddock, 2005, The genetics of schizophrenia and bipolar disorder: dissecting psychosis, J. Med. Genet., 42, 193, 10.1136/jmg.2005.030718
Cardno, 2002, A twin study of genetic relationships between psychotic symptoms, Am. J. Psychiatry, 159, 539, 10.1176/appi.ajp.159.4.539
Berrettini, 2003, Evidence for shared susceptibility in bipolar disorder and schizophrenia, Am. J. Med. Genet. C. Semin. Med. Genet., 123, 59, 10.1002/ajmg.c.20014
Hamshere, M.L. et al. Genome-wide linkage scan in schizoaffective disorder: Significant evidence for linkage (LOD=3.54) at 1q42 close to DISC1, and suggestive evidence at 22q11 and 19q13. Arch. Gen. Psychiatry (in press)
Hattori, 2003, Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series, Am. J. Hum. Genet., 72, 1131, 10.1086/374822
Chen, 2004, Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33, Mol. Psychiatry, 9, 87, 10.1038/sj.mp.4001453
Schumacher, 2004, Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder, Mol. Psychiatry, 9, 203, 10.1038/sj.mp.4001421
Green, 2005, The schizophrenia susceptibility gene, Neuregulin 1 (NRG1), operates across traditional diagnostic boundaries to increase risk for bipolar disorder, Arch. Gen. Psychiatry, 62, 642, 10.1001/archpsyc.62.6.642
Neale, 2004, The future of association studies: gene-based analysis and replication, Am. J. Hum. Genet., 75, 353, 10.1086/423901
Harrison, 2003, Genes for schizophrenia? Recent findings and their pathophysiological implications, Lancet, 361, 417, 10.1016/S0140-6736(03)12379-3
Moghaddam, 2003, Bringing order to the glutamate chaos in schizophrenia, Neuron, 40, 881, 10.1016/S0896-6273(03)00757-8
Harrison, 2005, Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence, Mol. Psychiatry, 10, 40, 10.1038/sj.mp.4001558
Moises, 2002, The glial growth factors deficiency and synaptic destabilization hypothesis of schizophrenia, BMC Psychiatry, 2, 8, 10.1186/1471-244X-2-8
Craddock, 2005, The beginning of the end for the Kraepelinian dichotomy, Br. J. Psychiatry, 186, 364, 10.1192/bjp.186.5.364
Prescott, 1993, Genetically mediated vulnerability to schizophrenia, Psychiatr. Clin. North Am., 16, 245, 10.1016/S0193-953X(18)30172-2
Owen, 1997, Genetics and psychiatry, Br. J. Psychiatry, 171, 201, 10.1192/bjp.171.3.201
Gottesman, 2003, The endophenotype concept in psychiatry: etymology and strategic intentions, Am. J. Psychiatry, 160, 636, 10.1176/appi.ajp.160.4.636
Lander, 1995, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results, Nat. Genet., 11, 241, 10.1038/ng1195-241
Sham, 2002, Linkage and Association, 55