Su Li, Shen Tingting, Huang Guifeng, Long Jianxiong, Fan Jingyuan, Ling Weijun, Jiang Juan
School of Public Health of Guangxi Medical University, Nanning, Guangxi, China; Guangxi Colleges and Universities Key Laboratory of Prevention and Control of Highly Prevalent Diseases, Nanning, Guangxi, China.
First Affiliated Hospital, Guangxi University of Chinese Medicine, Nanning, Guangxi, China.
Neurosci Lett. 2016 Jan 1;610:98-103. doi: 10.1016/j.neulet.2015.10.061. Epub 2015 Oct 31.
Schizophrenia (SCZ) is a severe neuropsychiatric disorder with high heritability. A recent European genome-wide association study has reported that mitotic arrest deficient-like 1 (MAD1L1) polymorphism rs12666575 is associated with SCZ susceptibility. This study aims to test the association of MAD1L1 variant rs12666575 with SCZ susceptibility in a Chinese population. A total of 1400 participants, which include 700 SCZ patients and 700 sex- and age-matched controls (Zhuang: 300, Han: 400, respectively), were genotyped using the Sequenom MassARRAY iPLEX platform. 591 SCZ patients underwent positive and negative syndrome scale (PANSS) assessment. Genetic association analysis was performed using the PLINK program. The results showed MAD1L1 rs12666575 polymorphism was significantly associated with SCZ susceptibility in the recessive model (p(adj)=0.013). Also, rs12666575 was significantly associated with general psychopathology sub-scale score (p(adj)=0.043) and thought disturbance factor score (p(adj)=0.045). Our data suggested that MAD1L1 rs12666575 polymorphism may play a protective role against SCZ in the Chinese population. Furthermore, rs12666575 may be associated with general psychopathology and thought disturbance in SCZ patients.
精神分裂症（SCZ）是一种具有高遗传性的严重神经精神障碍。最近一项欧洲全基因组关联研究报告称，有丝分裂阻滞缺陷样蛋白1（MAD1L1）多态性rs12666575与SCZ易感性相关。本研究旨在检验MAD1L1变体rs12666575与中国人群中SCZ易感性的关联。共有1400名参与者，其中包括700名SCZ患者和700名性别及年龄匹配的对照（壮族300名、汉族400名），使用Sequenom MassARRAY iPLEX平台进行基因分型。591名SCZ患者接受了阳性和阴性症状量表（PANSS）评估。使用PLINK程序进行遗传关联分析。结果显示，MAD1L1 rs12666575多态性在隐性模型中与SCZ易感性显著相关（校正p值=0.013）。此外，rs12666575与总体精神病理学亚量表评分（校正p值=0.043）和思维紊乱因子评分（校正p值=0.045）显著相关。我们的数据表明，MAD1L1 rs12666575多态性可能在中国人群中对SCZ起保护作用。此外，rs12666575可能与SCZ患者的总体精神病理学和思维紊乱有关。
