Institute of Mental Health, Peking University, 51 Hua Yuan Bei Road, Beijing 100191, China.
Psychiatry Res. 2013 May 15;207(1-2):13-8. doi: 10.1016/j.psychres.2013.02.026. Epub 2013 Apr 3.
Myosin Vb (MYO5B) has recently been implicated in the etiology of bipolar disorder in a genome-wide association study (GWAS). This gene is involved in amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor subunit glutamate receptor 1 (GluR1) recycling and plays an important role in the primary excitatory neurotransmission. Dysfunction of the brain glutamate system has been postulated to be involved in the pathophysiology in schizophrenia. To further investigate the association between MYO5B polymorphisms and schizophrenia, we genotyped nine single nucleotide polymorphisms (SNPs) in an independent sample of 1463 individuals with schizophrenia and 1563 healthy control subjects, and detected three SNPs and two haplotype blocks which displayed significant association with schizophrenia. This association was further strengthened by the results of meta-analysis. Our data strongly supported that the MYO5B gene might be associated with schizophrenia in the Chinese Han population and they have implications for understanding the glutamate hypothesis of schizophrenia.
肌球蛋白 VB(MYO5B)最近在全基因组关联研究(GWAS)中被牵连到双相情感障碍的病因中。该基因参与氨基-3-羟基-5-甲基-4-异恶唑丙酸(AMPA)受体亚基谷氨酸受体 1(GluR1)的再循环,在主要兴奋性神经递质传递中起着重要作用。据推测,大脑谷氨酸系统的功能障碍与精神分裂症的病理生理学有关。为了进一步研究 MYO5B 多态性与精神分裂症之间的关联,我们在一个独立的 1463 名精神分裂症患者和 1563 名健康对照者样本中对 9 个单核苷酸多态性(SNP)进行了基因分型,并检测到三个 SNP 和两个单倍型块与精神分裂症呈显著关联。荟萃分析的结果进一步加强了这种关联。我们的数据强烈支持 MYO5B 基因可能与中国汉族人群中的精神分裂症有关,这对理解精神分裂症的谷氨酸假说具有重要意义。