Association of the gene encoding neurogranin with schizophrenia in males
Association of the gene encoding neurogranin with schizophrenia in males
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DOI：
10.1016/j.jpsychires.2006.10.008
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发表时间：
2008-01-01
影响因子：
4.8
通讯作者：
Palha, Joana A.
中科院分区：
文献类型：
--
作者：
Ruano, Dina;Aulchenko, Yuril S.;Palha, Joana A.
神经颗粒蛋白（NRGN）基因产生突触后脑特异性蛋白，调节神经元中钙调素- ca2 +的可用性。NRGN作用于NMDA受体的下游和钙调磷酸酶及其他与精神分裂症相关的蛋白质的上游，是精神分裂症关联研究的一个很好的候选物。NRGN的表达在发育过程中受到调节，并受甲状腺激素和类维生素a的调节，这是中枢神经系统正常发育所必需的分子。考虑到精神分裂症的遗传复杂性和不同人群中潜在的遗传异质性，我们研究了NRGN与精神分裂症的可能关联，研究对象包括73名亚速尔人先证父母三联，以及来自葡萄牙大陆（244名精神分裂症患者和210名对照）和巴西（69名精神分裂症患者和85名精神健康个体）的两个独立病例对照样本。基因型分布显示rs7113041 SNP与葡萄牙裔男性精神分裂症相关，并通过先证-亲本三联分析证实了这一点。这一证据暗示NRGN与精神分裂症有关，为精神分裂症的谷氨酸能假说引入了另一个参与者。(c) 2006 Elsevier Ltd.版权所有。
The neurogranin (NRGN) gene produces a postsynaptic brain-specific protein that regulates calmodulin-Ca2+ availability in neurons. Acting downstream of the NMDA receptor and upstream of calcineurin and other proteins implicated in schizophrenia, NRGN is a good candidate for association studies in schizophrenia. NRGN expression is regulated during development and is modulated by thyroid hormones and retinoids, molecules essential for the proper development of the central nervous system. Given the genetic complexity of schizophrenia and the potential genetic heterogeneity in different populations, we studied a possible association of NRGN with schizophrenia in 73 Azorean proband-parent triads and in two independent case-control samples from the Portuguese-mainland (244 schizophrenic and 210 controls) and Brazil (69 schizophrenic and 85 mentally healthy individuals). Genotype distribution showed association of the rs7113041 SNP with schizophrenia in males of Portuguese origin, which was confirmed by the analysis of the proband-parent triads. This evidence, implicating NRGN in schizophrenia, introduces another player into the glutamatergic hypothesis of schizophrenia. (c) 2006 Elsevier Ltd. All rights reserved.