Mutation and association analysis of the DAP-1 gene with schizophrenia
Mutation and association analysis of the DAP-1 gene with schizophrenia
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DOI：
10.1046/j.1440-1819.2003.01162.x
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发表时间：
2003-10-01
影响因子：
11.9
通讯作者：
Maeda, K
中科院分区：
文献类型：
--
作者：
Aoyama, S;Shirakawa, O;Maeda, K
谷氨酸功能障碍已被假设为参与精神分裂症的病理生理学。果蝇盘大蛋白（Drosophila discs large protein，hDLG）和突触后密度-95相关蛋白-1（post-synaptic density-95-associated protein-1，DAP-1）的人类同源物是通过N-甲基-D-天冬氨酸受体参与细胞内信号转导的主要蛋白质之一。在本研究中，对33名日本精神分裂症患者进行了DAP-1基因突变筛查。DAP-1基因存在单核苷酸多态性（1618 A/G）。一项病例对照研究使用了更大的无关患者和对照样本，并没有揭示这种多态性与精神分裂症之间的显着关联。结果并没有提供证据表明DAP-1基因与精神分裂症的易感性有关。
Glutamate dysfunction has been hypothesized to be involved in the pathophysiology of schizophrenia. The human homolog of Drosophila discs large protein (hDLG) and post-synaptic density-95-associated protein-1 (DAP-1) is one of the major proteins that are involved in intracellular signal transduction via N-methyl-D-aspartate receptors. In the present study 33 Japanese patients with schizophrenia were screened for mutations in the DAP-1 gene. A single nucleotide polymorphism was identified in the DAP-1 gene (1618A/G). A case - control study using a larger sample of unrelated patients and controls did not reveal a significant association between this polymorphism and schizophrenia. The results do not provide evidence that the DAP-1 gene is involved in vulnerability to schizophrenia.