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  • Title: Investigation of variants in the promoter region of PIK3C3 in schizophrenia.
    Author: Tang R, Zhao X, Fang C, Tang W, Huang K, Wang L, Li H, Feng G, Zhu S, Liu H, He L, Shi Y.
    Journal: Neurosci Lett; 2008 May 23; 437(1):42-4. PubMed ID: 18420347.
    Abstract:
    The PIK3C3 gene has been implicated as a candidate gene for schizophrenia by functional evidence and genetic association studies. A series of previous studies have found susceptibility SNPs in promoter region. To further verify its susceptibility to schizophrenia in the Chinese population and the function of the polymorphisms, we performed a case control study in 556 unrelated schizophrenia patients and 563 normal controls as well as an in vitro functional analysis. In our association analysis of-432C-/T, we discovered obvious differences in allele frequency between patients and controls (P=0.017). A T/C haplotype constructed by -432C-/T and -86insC, which are tightly linked with each other (r(2)=1) can significantly weaken promoter's transcriptional activity by 20% (p=0.002 by t-test). Though we cannot exclude the possibility that susceptibility of -432C-/T is caused by its linkage disequilibrium with other causal variants, our results do support PIK3C3 play a significant role in the etiology of schizophrenia.
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