1 BMC Med. Genet. 2011 -1 12: 126
PMID 21951915
Title Association of C1QB gene polymorphism with schizophrenia in Armenian population.
Abstract schizophreniais a complex, multifactorial psychiatric disorder. Our previous findings indicated that altered functional activity of the complement system, a major mediator of the immune response, is implicated in the pathogenesis ofschizophrenia. In order to explore whether these alterations are genetically determined or not, in the present study we evaluated the possible association of complement C1Q component gene variants with susceptibility toschizophreniain Armenian population, focusing on four frequent single nucleotide polymorphisms (SNPs) ofC1QAand C1QB genes.
In the present study four SNPs of the complement C1Q component genes (C1QA: rs292001, C1QB rs291982, rs631090, rs913243) were investigated inschizophrenia-affected and healthy subjects. Unrelated Caucasian individuals of Armenian nationality, 225schizophrenicpatients and the same number of age- and sex-matched healthy subjects, were genotyped. Genotyping was performed using polymerase chain reaction with sequence-specific primers (PCR-SSP) and quantitative real-time (qRT) PCR methods.
While there was no association betweenC1QArs292001, C1QB rs913243 and rs631090 genetic variants andschizophrenia, the C1QB rs291982*G minor allele was significantly overrepresented inschizophrenicpatients (G allele frequency 58%) when compared to healthy subjects (46%, OR = 1.64, p(corr) = 0.0008). Importantly, the susceptibility forschizophreniawas particularly associated with C1QB rs291982 GG genotype (OR = 2.5, p(corrected) = 9.6E-5).
The results obtained suggest that C1QB gene may be considered as a relevant candidate gene for susceptibility toschizophrenia, and its rs291982*G minor allele might represent a risk factor forschizophreniaat least in Armenian population. Replication in other centers/populations is necessary to verify this conclusion.
SCZ Keywords schizophrenia, schizophrenic
2 BMC Med. Genet. 2011 -1 12: 126
PMID 21951915
Title Association of C1QB gene polymorphism with schizophrenia in Armenian population.
Abstract schizophreniais a complex, multifactorial psychiatric disorder. Our previous findings indicated that altered functional activity of the complement system, a major mediator of the immune response, is implicated in the pathogenesis ofschizophrenia. In order to explore whether these alterations are genetically determined or not, in the present study we evaluated the possible association of complement C1Q component gene variants with susceptibility toschizophreniain Armenian population, focusing on four frequent single nucleotide polymorphisms (SNPs) ofC1QAand C1QB genes.
In the present study four SNPs of the complement C1Q component genes (C1QA: rs292001, C1QB rs291982, rs631090, rs913243) were investigated inschizophrenia-affected and healthy subjects. Unrelated Caucasian individuals of Armenian nationality, 225schizophrenicpatients and the same number of age- and sex-matched healthy subjects, were genotyped. Genotyping was performed using polymerase chain reaction with sequence-specific primers (PCR-SSP) and quantitative real-time (qRT) PCR methods.
While there was no association betweenC1QArs292001, C1QB rs913243 and rs631090 genetic variants andschizophrenia, the C1QB rs291982*G minor allele was significantly overrepresented inschizophrenicpatients (G allele frequency 58%) when compared to healthy subjects (46%, OR = 1.64, p(corr) = 0.0008). Importantly, the susceptibility forschizophreniawas particularly associated with C1QB rs291982 GG genotype (OR = 2.5, p(corrected) = 9.6E-5).
The results obtained suggest that C1QB gene may be considered as a relevant candidate gene for susceptibility toschizophrenia, and its rs291982*G minor allele might represent a risk factor forschizophreniaat least in Armenian population. Replication in other centers/populations is necessary to verify this conclusion.
SCZ Keywords schizophrenia, schizophrenic
3 Schizophr. Res. 2015 Feb 161: 215-21
PMID 25487697
Title Innate immune response is differentially dysregulated between bipolar disease and schizophrenia.
Abstract schizophrenia(SZ) and bipolar disorder (BD) are severe psychiatric conditions with a neurodevelopmental component. Genetic findings indicate the existence of an overlap in genetic susceptibility across the disorders. Also, image studies provide evidence for a shared neurobiological basis, contributing to a dimensional diagnostic approach. This study aimed to identify the molecular mechanisms that differentiate SZ and BD patients from health controls but also that distinguish both from health individuals. Comparison of gene expression profiling in post-mortem brains of both disorders and health controls (30 cases), followed by a further comparison between 29 BD and 29 SZ revealed 28 differentially expressed genes. These genes were used in co-expression analysesthat revealed the pairs CCR1/SERPINA1, CCR5/HCST,C1QA/ CD68、CCR5 / S100A11和SERPINA1 / TLR1 presenting the most significant difference in co-expression between SZ and BD. Next, a protein-protein interaction (PPI) network using the 28 differentially expressed genes as seeds revealed CASP4, TYROBP, CCR1, SERPINA1, CCR5 andC1QAas having a central role in the diseases manifestation. Both co-expression and network topological analyses pointed to genes related to microglia functions. Based on this data, we suggest that differences between SZ and BP are due to genes involved with response to stimulus, defense response, immune system process and response to stress biological processes, all having a role in the communication of environmental factors to the cells and associated to microglia.
SCZ Keywords schizophrenia, schizophrenic
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