Family-based association study of DTNBP1 in 6p22.3 and schizophrenia

Zhou, Jian; Fan, Jinbo; Li, X. W.; Shi, Yongyong; Gu, Ning; Feng, Guo; Xing, Yang-ling; Shi, Jiannong; He, Lin

doi:10.1038/sj.mp.4001287

Cited by 136 publications

(77 citation statements)

References 10 publications

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“…37 Considering only p1578 (rs1018381) and p1763 (rs2619522), which appear in the data in Table 1 and Figure 2, this pattern is consistent with any of haplotypes 1, 3, 4 or 6. However, two additional pieces of information suggest strongly that the principal contributor to the observed association is haplotype 1.…”

Section: Molecular Genetic Studies Of Schizophrenia B Riley and Ks Kesupporting

confidence: 58%

“…However, the sample populations are very different, and we cannot assume that the haplotype structures or their frequencies are the same in Han Chinese as in Europeans. For example, the associated alleles of p1655 (rs2619539) reported at this marker in the studies of Tang et al 37 and Williams et al 42 are different, but are the common alleles in both samples. The allele frequencies are very close in European samples (CB0.52, GB0.48) but appear to be inverted in the Han sample data (G40.63).…”

Section: Molecular Genetic Studies Of Schizophrenia B Riley and Ks Kementioning

confidence: 99%

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Molecular genetic studies of schizophrenia

2006

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Section: Molecular Genetic Studies Of Schizophrenia B Riley and Ks Kesupporting

confidence: 58%

Section: Molecular Genetic Studies Of Schizophrenia B Riley and Ks Kementioning

confidence: 99%

Molecular genetic studies of schizophrenia

2006

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“…227,228 Another positive report has come from a Han Chinese family-based sample, typed for seven SNPs spanning the Straub et al 225 panel from introns 1 to 9, and reporting significant overtransmission of a common five marker haplotype. 229 Again, the original three marker haplotypes positive in the Irish study were not overtransmitted in this sample, and the authors did not report their individual SNP analyses. Van den Bogaert et al 230 typed four of the most positive SNPs from the earlier studies, spanning introns 3 and 4, and an additional marker contained within the high-risk haplotypes, and examined three case-control samples, from Germany (418 cases, 285 controls), Poland (294,113), and Sweden (142,272).…”

Section: Dysbindin (Dtnbp1)mentioning

confidence: 99%

Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence

2004

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This review critically summarizes the neuropathology and genetics of schizophrenia, the relationship between them, and speculates on their functional convergence. The morphological correlates of schizophrenia are subtle, and range from a slight reduction in brain size to localized alterations in the morphology and molecular composition of specific neuronal, synaptic, and glial populations in the hippocampus, dorsolateral prefrontal cortex, and dorsal thalamus. These findings have fostered the view of schizophrenia as a disorder of connectivity and of the synapse. Although attractive, such concepts are vague, and differentiating primary events from epiphenomena has been difficult. A way forward is provided by the recent identification of several putative susceptibility genes (including neuregulin, dysbindin, COMT, DISC1, RGS4, GRM3, and G72). We discuss the evidence for these and other genes, along with what is known of their expression profiles and biological roles in brain and how these may be altered in schizophrenia. The evidence for several of the genes is now strong. However, for none, with the likely exception of COMT, has a causative allele or the mechanism by which it predisposes to schizophrenia been identified. Nevertheless, we speculate that the genes may all converge functionally upon schizophrenia risk via an influence upon synaptic plasticity and the development and stabilization of cortical microcircuitry. NMDA receptor-mediated glutamate transmission may be especially implicated, though there are also direct and indirect links to dopamine and GABA signalling. Hence, there is a correspondence between the putative roles of the genes at the molecular and synaptic levels and the existing understanding of the disorder at the neural systems level. Characterization of a core molecular pathway and a 'genetic cytoarchitecture' would be a profound advance in understanding schizophrenia, and may have equally significant therapeutic implications. Molecular Psychiatry (2005) 10, 40-68.

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“…82,[148][149][150][151][152][153][154][155][156] The role of dysbindin-1 protein remains poorly understood but the association of this protein with schizophrenia initiated an intensive search for new mechanisms of action in addition to its possible role in the pathogenesis of muscular dystrophy. 157 Dysbindin has been linked to the PI3K-Akt signaling pathway.…”

Section: Dysbindin-1mentioning

confidence: 99%

New genes associated with schizophrenia in neurite formation: a review of cell culture experiments

Bellon

2007

Mol Psychiatry

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New genes consistently associated with schizophrenia include NRG1, Akt, DISC-1 and dysbindin-1. Since these genes participate in neurotransmission, neuroplasticity and neurodevelopment it has not been easy to elucidate which of these roles are abnormal in patients with schizophrenia. Neurite formation is identified as a crucial stage in development, and it is proposed that a defect in neurite formation originating from abnormally encoded proteins by these new genes could be at least an in vitro marker that reflects the most consistent molecular and neuroanatomical findings in schizophrenia. A systematic review of the literature linking the process of neurite formation to genes with replicated evidence that supported their association with schizophrenia was conducted. In addition, an outline of the process of neurite formation was included. Neurite formation was shown to be induced by neuregulins, the product of the gene NRG1. The activation of Akt, a serine/threonine kinase, promoted neurite formation in six independent studies. Conversely, two studies found that Akt inhibits neurite outgrowth. Stronger evidence supporting an association with the new genes related to schizophrenia and neurite formation comes from DISC-1. Defects in DISC-1 protein were shown to directly alter the process of neurite formation. Dysbindin-1 has not yet been directly implicated in neurite outgrowth. These findings suggest that the proteins encoded by NRG1, Akt and DISC-1 are implicated in the process of neurite formation in cellular models as well as, at least in part, animal models during development. Abnormalities in this process could have potential etiologic implications for schizophrenia. Direct evidence, however, of abnormal neurite formation in patients with schizophrenia is still missing. Limitations to this model are identified.

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Family-based association study of DTNBP1 in 6p22.3 and schizophrenia

Cited by 136 publications

References 10 publications

Molecular genetic studies of schizophrenia

Molecular genetic studies of schizophrenia

Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence

New genes associated with schizophrenia in neurite formation: a review of cell culture experiments

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