Lv Ye, Sun Yang, Wang Guan-Yu, Yin Jian, Li Cheng-Jie, Luo Yi-Yang, Luan Zhi-Lin
Advanced Institute for Medical Sciences, Dalian Medical University, Dalian, China.
Department of Psychiatry, Dalian Seventh People's Hospital, Dalian, China.
Psychiatry Investig. 2020 Sep;17(9):934-940. doi: 10.30773/pi.2020.0133. Epub 2020 Sep 17.
Schizophrenia is one of the most devastating neuropsychiatric disorders. Genetic epidemiological studies have confirmed that schizophrenia is a genetic disease. Genes promoting neurodevelopment may be potential candidates for schizophrenia. As an adaptor linking a number of tyrosine kinase receptors in multiple intracellular signaling cascades, Src homology 2 domain containing transforming protein 3 (SHC3) is a member of the Shc-like adaptor protein family, and expressed predominantly in the mature neurons of the central nervous system (CNS). In the present study, we aimed to investigate the association of SHC3 and schizophrenia.
An independent case-control association study was performed in a sample including 710 schizophrenia patients and 1314 healthy controls from a Northeast Chinese Han population.
The allelic and genotypic association analyses showed that four SNPs in SHC3 significantly associated with schizophrenia (rs2316280, rs4877041, rs944485 and rs7021743). The haplotype composing of these four SNPs also showed significantly individual and global association with schizophrenia.
Our present results suggest SHC3 as a susceptibility gene for schizophrenia.
精神分裂症是最具破坏性的神经精神疾病之一。遗传流行病学研究已证实精神分裂症是一种遗传性疾病。促进神经发育的基因可能是精神分裂症的潜在候选基因。含Src同源2结构域的转化蛋白3（SHC3）作为连接多个细胞内信号级联中多种酪氨酸激酶受体的衔接蛋白，是类Shc衔接蛋白家族的成员，主要在中枢神经系统（CNS）的成熟神经元中表达。在本研究中，我们旨在探讨SHC3与精神分裂症的关联。
在一个包含710例精神分裂症患者和1314例来自中国东北汉族人群健康对照的样本中进行了一项独立的病例对照关联研究。
等位基因和基因型关联分析表明，SHC3中的4个单核苷酸多态性（SNP）与精神分裂症显著相关（rs2316280、rs4877041、rs944485和rs7021743）。由这4个SNP组成的单倍型也显示出与精神分裂症显著的个体和整体关联。
我们目前的结果表明SHC3是精神分裂症的一个易感基因。
