Investigation of variants in the promoter region of PIK3C3 in schizophrenia

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• 作者：Ruqi Tang ; Xinzhi Zhao ; Chao Fang ; Wei Tang ; Ke Huang ; Lei Wang ; Huafang Li ; Guoyin Feng ; Shaomin Zhu ; Huijun Liu ; Lin He ; Yongyong Shi
• 关键词：Schizophrenia ; Association study ; Functional analysis
• 刊名：Neuroscience Letters
• 出版年：2008
• 出版时间：23 May 2008
• 年：2008
• 卷：437
• 期：1
• 页码：42-44
• 全文大小：178 K

文摘

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 (r² = 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.