Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan.
J Hum Genet. 2010 Sep;55(9):631-4. doi: 10.1038/jhg.2010.72. Epub 2010 Jun 17.
Many gene variants are involved in the susceptibility to schizophrenia and some of them are expected to be associated with other human characters. Recently reported meta-analysis of genetic associations revealed nucleotide variants in synaptic vesicular transport/Golgi apparatus genes with schizophrenia. In this study, we selected the dymeclin gene (DYM) as a candidate gene for schizophrenia. The DYM gene encodes dymeclin that has been identified to be associated with the Golgi apparatus and with transitional vesicles of the reticulum-Golgi interface. A three-step case-control study of total of 2105 Japanese cases of schizophrenia and 2087 Japanese control subjects was carried out for tag single-nucleotide polymorphisms (SNPs) in the DYM gene and an association between an SNP, rs833497, and schizophrenia was identified (allelic P=2 × 10(-5), in the total sample). DYM is the causal gene for Dyggve-Melchior-Clausen syndrome and this study shows the second neuropsychiatric disorder in which the DYM gene is involved. The present data support the involvement of Golgi function and vesicular transport in the presynapse in schizophrenia.
许多基因变异与精神分裂症的易感性有关,其中一些预计与其他人类特征有关。最近报道的一项基因关联的荟萃分析显示,突触囊泡转运/高尔基体基因中的核苷酸变异与精神分裂症有关。在这项研究中,我们选择了动力蛋白微管结合蛋白(DYM)基因作为精神分裂症的候选基因。DYM 基因编码动力蛋白微管结合蛋白,该蛋白已被确定与高尔基体和网状内质网-高尔基体界面的过渡小泡有关。我们对总共 2105 例日本精神分裂症病例和 2087 例日本对照进行了三阶段病例对照研究,对 DYM 基因中的标签单核苷酸多态性(SNP)进行了分析,并鉴定出 SNP rs833497 与精神分裂症之间存在关联(总样本的等位基因 P=2×10(-5))。DYM 是 Dyggve-Melchior-Clausen 综合征的致病基因,本研究表明 DYM 基因参与了第二种神经精神疾病。目前的数据支持高尔基体功能和囊泡转运在突触前在精神分裂症中的作用。