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Please use this identifier to cite or link to this item:
http://ir.nhri.org.tw/handle/3990099045/6266
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| Title: | Genetic and functional analysis of the gene encoding neurogranin in schizophrenia |
| Authors: | Shen, YC;Tsai, HM;Cheng, MC;Hsu, SH;Chen, SF;Chen, CH |
| Contributors: | Division of Mental Health and Addiction Medicine |
| Abstract: | OBJECTIVES: Schizophrenia is a highly heritable disorder, but many aspects of its etiology and pathophysiology remain poorly understood. Recently, a SNP rs12807809 located upstream of the neurogranin (NRGN) gene achieved genome-wide significance in this disorder. METHODS: In order to find the causal variants of NRGN gene in schizophrenia, we searched for genetic variants in the promoter region and all the exons (including both UTR ends and rs12807809) using direct sequencing in a sample of patients with schizophrenia (n=346) and non-psychotic controls (n=345), both being Han Chinese from Taiwan, and conducted an association and functional study. RESULTS: We identified 7 common polymorphisms in the NRGN gene. SNP and haplotype-based analyses displayed no associations with schizophrenia. Additionally, we identified 5 rare variants in 6 out of 346 patients, including 3 rare variants located at the promoter region (g.-620A>G, g.-578C>G, and g.-344G>A) and 2 rare variants located at 5' UTR (c.-74C>G, and c.-41G>A). No rare variants were found in the control subjects. The results of the reporter gene assay demonstrated that the regulatory activity of construct containing g.-620G, g.-578G, g.-344A, c.-74G, and c.-41A was significantly lower as compared to the wild type construct (P<0.01 for g.-578G; P<0.001 for the other constructs). In silico analysis also demonstrated their influences on the regulatory function of NRGN gene. CONCLUSIONS: Our study lends support to the hypothesis of multiple rare mutations in schizophrenia, and provides genetic clues that indicate the involvement of NRGN in this disorder. |
| Date: | 2012-05 |
| Relation: | Schizophrenia Research. 2012 May;137(1-3):7-13. |
| Link to: | http://dx.doi.org/10.1016/j.schres.2012.01.011 |
| JIF/Ranking 2023: | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0920-9964&DestApp=IC2JCR |
| Cited Times(WOS): | https://www.webofscience.com/wos/woscc/full-record/WOS:000303933800001 |
| Cited Times(Scopus): | http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84862795706 |
| Appears in Collections: | [陳嘉祥(2009-2013)] 期刊論文
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| PB2012020104.pdf | | 399Kb | Adobe PDF | 576 | View/Open |
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