1DNA Cell Biol. 2010 Dec 29: 745-51
TitleAssociation analysis between the rs11136000 single nucleotide polymorphism in clusterin gene, rs3851179 single nucleotide polymorphism in clathrin assembly lymphoid myeloid protein gene and the patients with schizophrenia in the Chinese population.
AbstractCLUsterin (CLU) and clathrin assembly lymphoid myeloid (CALM) protein are implicated in the function of neuronal synapses. However, to our knowledge, whether they play roles in the maldevelopment of synaptic pathways in schizophrenia has not been studied. The purpose of this study was to examine whether single nucleotide polymorphisms rs11136000 within the CLU gene and rs3851179 within the CALM gene, were associated with schizophrenia. Polymorphisms rs11136000 and rs3851179 were analyzed among 184 Chinese patients with schizophrenia and 162 healthy controls. The high-resolution melting method was used to genotype the two loci. Patients with schizophrenia and with family history showed a significant increase of allele C frequency in rs11136000 in comparison to normal controls (p?=?0.03). In addition, the C allele frequency was also higher in patients with negative symptoms (p?=?0.04). In contrast, allele and genotype frequencies of rs3851179 did not show significant differences between patients and normal subjects or between patients with different symptoms. The results of this study show that polymorphism of the CLU gene may confer symptomatic specificity in schizophrenia, whereas polymorphism of the CALM gene does not affect susceptibility to schizophrenia.
SCZ Keywordsschizophrenia
2Schizophr Bull 2016 May -1: -1
TitleGenome-Wide Association Studies Suggest Limited Immune Gene Enrichment in Schizophrenia Compared to 5 Autoimmune Diseases.
AbstractThere has been intense debate over the immunological basis of schizophrenia, and the potential utility of adjunct immunotherapies. The major histocompatibility complex is consistently the most powerful region of association in genome-wide association studies (GWASs) of schizophrenia and has been interpreted as strong genetic evidence supporting the immune hypothesis. However, global pathway analyses provide inconsistent evidence of immune involvement in schizophrenia, and it remains unclear whether genetic data support an immune etiology per se. Here we empirically test the hypothesis that variation in immune genes contributes to schizophrenia. We show that there is no enrichment of immune loci outside of the MHC region in the largest genetic study of schizophrenia conducted to date, in contrast to 5 diseases of known immune origin. Among 108 regions of the genome previously associated with schizophrenia, we identify 6 immune candidates (DPP4, HSPD1, EGR1, CLU, ESAM, NFATC3) encoding proteins with alternative, nonimmune roles in the brain. While our findings do not refute evidence that has accumulated in support of the immune hypothesis, they suggest that genetically mediated alterations in immune function may not play a major role in schizophrenia susceptibility. Instead, there may be a role for pleiotropic effects of a small number of immune genes that also regulate brain development and plasticity. Whether immune alterations drive schizophrenia progression is an important question to be addressed by future research, especially in light of the growing interest in applying immunotherapies in schizophrenia.
SCZ Keywordsschizophrenia