| 1 | Psychiatry Res 2010 Nov 180: 5-9 |
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| PMID | 20483485 |
| Title | Is the EFNB2 locus associated with schizophrenia? Single nucleotide polymorphisms and haplotypes analysis. |
| Abstract | Recently, evidence of linkage of schizophrenia to chromosome 13q22-q34 has been demonstrated in multiple studies. Based on structure and function, EFNB2 may be considered as a compelling candidate gene for schizophrenia on chromosome 13q33. We genotyped three single-nucleotide polymorphisms (SNPs: rs9520087, rs11069646, and rs8000078) in this region in 846 Han Chinese subjects (477 cases and 369 controls). Significant association between an allele of marker rs9520087 and schizophrenia was found. Furthermore, since no LD was observed in the three SNPs linkage disequilibrium estimation, all three SNPs were used in multiple SNPs haplotype analysis, and a strongly significant difference was found for the common haplotype TTC. Overall our findings indicate that EFNB2 gene may be a candidate susceptibility gene for schizophrenia in the Han Chinese population, and also provide further support for the potential importance of the NMDA receptor pathway in the etiology of schizophrenia. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 2 | Nature 2011 Apr 472: 356-60 |
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| PMID | 21460838 |
| Title | Ephrin Bs are essential components of the Reelin pathway to regulate neuronal migration. |
| Abstract | Coordinated migration of neurons in the developing and adult brain is essential for its proper function. The secreted glycoprotein Reelin (also known as RELN) guides migration of neurons by binding to two lipoprotein receptors, the very-low-density lipoprotein receptor (VLDLR) and apolipoprotein E receptor 2 (ApoER2, also known as LRP8). Loss of Reelin function in humans results in the severe developmental disorder lissencephaly and it has also been associated with other neurological disorders such as epilepsy, schizophrenia and Alzheimer's disease. The molecular mechanisms by which Reelin activates its receptors and controls cellular functions are largely unknown. Here we show that the neuronal guidance cues ephrin B proteins are essential for Reelin signalling during the development of laminated structures in the brain. We show that ephrin Bs genetically interact with Reelin. Notably, compound mouse mutants (Reln(+/-); Efnb3(-/-) or Reln(+/-); EFNB2(-/-)) and triple ephrin B1, B2, B3 knockouts show neuronal migration defects that recapitulate the ones observed in the neocortex, hippocampus and cerebellum of the reeler mouse. Mechanistically, we show that Reelin binds to the extracellular domain of ephrin Bs, which associate at the membrane with VLDLR and ApoER2 in neurons. Clustering of ephrin Bs leads to the recruitment and phosphorylation of Dab1 which is necessary for Reelin signalling. Conversely, loss of function of ephrin Bs severely impairs Reelin-induced Dab1 phosphorylation. Importantly, activation of ephrin Bs can rescue the reeler neuronal migration defects in the absence of Reelin protein. Together, our results identify ephrin Bs as essential components of the Reelin receptor/signalling pathway to control neuronal migration during the development of the nervous system. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 3 | Asia Pac Psychiatry 2016 Mar -1: -1 |
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| PMID | 27028544 |
| Title | Association of EPHB1 rs11918092 and EFNB2 rs9520087 with psychopathological symptoms of schizophrenia in Chinese Zhuang and Han populations. |
| Abstract | Two single-nucleotide polymorphisms (SNPs) (rs11918092 and rs9520087) were genotyped in Chinese Zhuang and Han populations. Symptoms of schizophrenic patients were assessed by the Positive and Negative Syndrome Scale. No association of any SNP with schizophrenic susceptibility was found. However, associations of rs9520087 with the total scale score (P?=?0.014), positive scale score (P?=?0.013), negative scale score (P?=?0.032), and general psychopathology scale score (P?=?0.031) were found in Zhuang patients. Additionally, rs11918092 was associated with positive scale score (P?=?0.035) in Han patients. The two SNPs might influence symptoms of schizophrenia. © 2016 John Wiley & Sons Australia, Ltd. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 4 | Asia Pac Psychiatry 2016 Mar -1: -1 |
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| PMID | 27028544 |
| Title | Association of EPHB1 rs11918092 and EFNB2 rs9520087 with psychopathological symptoms of schizophrenia in Chinese Zhuang and Han populations. |
| Abstract | Two single-nucleotide polymorphisms (SNPs) (rs11918092 and rs9520087) were genotyped in Chinese Zhuang and Han populations. Symptoms of schizophrenic patients were assessed by the Positive and Negative Syndrome Scale. No association of any SNP with schizophrenic susceptibility was found. However, associations of rs9520087 with the total scale score (P?=?0.014), positive scale score (P?=?0.013), negative scale score (P?=?0.032), and general psychopathology scale score (P?=?0.031) were found in Zhuang patients. Additionally, rs11918092 was associated with positive scale score (P?=?0.035) in Han patients. The two SNPs might influence symptoms of schizophrenia. © 2016 John Wiley & Sons Australia, Ltd. |
| SCZ Keywords | schizophrenia, schizophrenic |