國家衛生研究院 NHRI:Item 3990099045/3839
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    题名: Exomic sequencing of the glutamate receptor, ionotropic, N-methyl-d-aspartate 3A gene (GRIN3A) reveals no association with schizophrenia
    作者: Shen, YC;Liao, DL;Chen, JY;Wang, YC;Lai, IC;Liou, YJ;Chen, YJ;Luu, SU;Chen, CH
    贡献者: Division of Mental Health and Substance Abuse Research
    摘要: Background: Growing evidence suggests that dysregulation of N-methyl-d-aspartate receptor (NMDAR)-mediated glutamate neurotransmission may be involved in the pathophysiology of schizophrenia. The NMDAR is a heteromeric protein complex consisting of subunits from three subfamilies (NR1, NR2A, 2B, 2C, 2D and NR3A, 3B). The unique ability of NR3A to modulate the NMDAR function makes it an attractive candidate gene of schizophrenia. The purpose of this study was to investigate the involvement of the gene encoding the human NR3A subunit (GRIN3A) in the liability to schizophrenia. Methods: We searched for genetic variants in the putative core promoter region and all the exons (including UTR ends) of the GRIN3A gene in 333 Han Chinese patients with schizophrenia and 369 control subjects from Taiwan using direct polymerase chain reaction (PCR) autosequencing, and assessed their association with schizophrenia. Results: We identified 22 single nucleotide polymorphisms (SNPs) in the GRIN3A gene in this sample. SNP- and haplotype-based analyses showed no association of these 22 SNPs with schizophrenia. Nevertheless, we identified two missense mutations (D133N and Q1091H), one nonsense mutation (R1024X), and two synonymous mutations (Y873Y and E889E) of the GRIN3A gene in 6 out of 333 (1.8%) patients, while no rare mutations were found in 369 control subjects (p = 0.011, Fisher's exact test, one-tailed). In silico analysis showed that the R1024X and Q1091H mutations are possibly damaging. Conclusions: Although the functional significance of these mutations remains to be characterized, our study indicates that rare mutations in the GRIN3A gene may contribute to the pathogenesis of schizophrenia in certain patients.
    日期: 2009-10
    關聯: Schizophrenia Research. 2009 Oct;114(1-3):25-32.
    Link to: http://dx.doi.org/10.1016/j.schres.2009.07.005
    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:000270758700004
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=69949135312
    显示于类别:[陳嘉祥(2009-2013)] 期刊論文
    [廖定烈(2005-2008)] 期刊論文

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