Novel missense polymorphism in the regulator of G-protein signaling 10 gene: analysis of association with schizophrenia
Novel missense polymorphism in the regulator of G-protein signaling 10 gene: analysis of association with schizophrenia
复制标题
DOI：
10.1111/j.1440-1819.2004.01303.x
复制
发表时间：
2004-10-01
影响因子：
11.9
通讯作者：
Maeda, K
中科院分区：
文献类型：
--
作者：
Hishimoto, A;Shirakawa, O;Maeda, K
通过G蛋白的神经元信号转导功能障碍先前被推测参与精神分裂症的病理生理学。G蛋白信号调节因子（Regulator of G-protein signaling，RGS）是一种G α蛋白的GTP酶激活因子。共有33名日本精神分裂症患者进行了RGS 10基因编码区突变的筛查，并在RGS结构域检测到一种新的错义多态性（Val 38 Met）。一项病例对照研究没有发现这种多态性与精神分裂症之间的显着关联。这些结果并没有提供证据表明RGS 10基因与精神分裂症的生物易感性有关。
Dysfunction of neuronal signal transduction via G-protein has previously been speculated to be involved in the pathophysiology of schizophrenia. Regulator of G-protein signaling (RGS) is a protein that acts as a GTPase-activator for Galpha protein. A total of 33 Japanese patients with schizophrenia were screened for mutations in the coding region of the RGS10 gene, and a novel missense polymorphism (Val38Met) in the RGS domain was detected. A case-control study did not reveal a significant association between this polymorphism and schizophrenia. The results do not provide evidence that the RGS10 gene is involved in biological vulnerability to schizophrenia.