Zhou Juan, Chen Jianhua, Xu Wei, Liu Yahui, Song Zhijian, Wen Zujia, Jian Xuemin, Yu Jiezhong, Ma Xiaojun, Wang Zhuo, Pan Dun, Yi Qizhong, Shi Yongyong
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University.
Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine.
Psychiatr Genet. 2019 Aug;29(4):120-126. doi: 10.1097/YPG.0000000000000229.
Schizophrenia is one of the most severe mental disorders and its etiology is supposed to be an interaction between genes and environmental factors. Previous genome-wide association studies of schizophrenia have reported multiple susceptibility loci including rs6704641 in the SATB2 gene. Recently, this locus was further confirmed as a genome-wide significant locus for association with schizophrenia by trans-ancestry meta-analysis of Han Chinese and Caucasian samples. However, there is no report of genetic analysis in Uygur Chinese population, which is considered to have a combined genetic background between eastern Asia and Caucasian. This study is aimed to explore whether SATB2 gene is significantly associated with schizophrenia in Uygur Chinese population, thus providing additional evidence for elucidating the role of SATB2 gene in schizophrenia.
In this study, we performed a case-control analysis focusing on seven tag single nucleotide polymorphisms located in SATB2 gene among 985 patients with schizophrenia and 1218 healthy controls recruited from the Xinjiang Province of China.
We found that rs6704641 was significantly associated with schizophrenia in both allelic and genotypic distributions (Pallele = 0.008, Pgenotype = 0.028 after correction). In addition, rs16831466 is significantly associated with schizophrenia in allelic distributions (corrected Pallele = 0.041). Besides, several haplotypes of single nucleotide polymorphism are significantly associated with schizophrenia too.
Our results suggest that SATB2 is also a susceptibility gene for schizophrenia in Uygur Chinese population, and subsequent functional experiments are necessary to reveal its role in the pathogenesis.
精神分裂症是最严重的精神障碍之一，其病因被认为是基因与环境因素之间的相互作用。先前关于精神分裂症的全基因组关联研究报告了多个易感位点，包括SATB2基因中的rs6704641。最近，通过对汉族和高加索样本的跨种族荟萃分析，该位点被进一步确认为与精神分裂症相关的全基因组显著位点。然而，在具有东亚和高加索混合遗传背景的中国维吾尔族人群中，尚无遗传分析报告。本研究旨在探讨SATB2基因在中国维吾尔族人群中是否与精神分裂症显著相关，从而为阐明SATB2基因在精神分裂症中的作用提供更多证据。
在本研究中，我们对从中国新疆招募的985例精神分裂症患者和1218名健康对照者进行了病例对照分析，重点关注位于SATB2基因中的7个标签单核苷酸多态性。
我们发现rs6704641在等位基因和基因型分布上均与精神分裂症显著相关（校正后P等位基因 = 0.008，P基因型 = 0.028）。此外，rs16831466在等位基因分布上与精神分裂症显著相关（校正后P等位基因 = 0.041）。此外，单核苷酸多态性的几种单倍型也与精神分裂症显著相关。
我们的结果表明，SATB2也是中国维吾尔族人群中精神分裂症的一个易感基因，后续的功能实验对于揭示其在发病机制中的作用是必要的。
