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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
An evaluation of association between common variants in C4BPB/C4BPA genes and schizophrenia
Shuihong Wang1, Houquan Lu2, Jianliang Ni1
1Tongde Hospital of Zhejiang Province, Zhejiang, China.
Insights
Genetic variants in C4BPB and C4BPA genes were not associated with schizophrenia risk in a Han Chinese population. This study suggests these complement genes may not play a direct role in schizophrenia susceptibility.
Area of Science:
- Neuroscience
- Genetics
- Immunology
Background:
- Maternal infections during pregnancy are linked to increased schizophrenia risk in offspring.
- Reduced levels of C4b-binding protein (C4BP), a complement inhibitor, have been previously associated with schizophrenia.
- The genetic basis for the link between infections, C4BP, and schizophrenia remains unclear.
Purpose of the Study:
- To investigate whether common variants in C4BPB and C4BPA genes confer susceptibility to schizophrenia.
- To explore the potential role of C4BP gene variants in the observed association between C4BP levels and schizophrenia risk.
Main Methods:
- Case-control study design involving 556 schizophrenia patients and 610 healthy controls.
- Analysis of 4 single nucleotide polymorphisms (SNPs) in C4BPB and 5 SNPs in C4BPA.
- Comparison of genotype and allele frequencies of selected SNPs between patient and control groups.
Main Results:
- No statistically significant association was found between the analyzed C4BPB/C4BPA variants and schizophrenia.
- Genotype and allele frequencies of the studied SNPs did not differ between schizophrenia cases and healthy controls.
Conclusions:
- The findings suggest that common C4BPB and C4BPA gene variants do not confer susceptibility to schizophrenia in the studied Han Chinese population.
- Further large-scale genetic studies are needed to confirm these preliminary results and fully elucidate the role of complement system genes in schizophrenia.
Abstract:
Epidemiological studies have indicated that both maternal bacterial and viral infections during pregnancy increase the risk of schizophrenia among offspring, but to date there is not clear explanation for this increased risk. Previously, the decreased C4b-binding protein (C4BP), a potent circulating soluble inhibitor of the classical and lectin pathways of complement, was reported to be associated with risk of schizophrenia. Here, we analyzed 4 common single nucleotide polymorphisms (SNPs) of C4BPB and 5 SNPs of C4BPA in a group of 556 schizophrenia patients and a matched group of 610 healthy controls to see if the genes C4BPB and C4BPA, which encode C4BP, may confer a susceptibility to schizophrenia. Comparing the genotype and allele frequencies of those SNPs between cases and controls, we found no association between the C4BPB/C4BPA variants and schizophrenia. Our results provided preliminary evidence that C4BPB/C4BPA may not confer susceptibility to schizophrenia among Han Chinese. Further genetic studies from large-scale population are required to obtain more conclusive results.
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