Fu Xiaoqian, Wang Jun, Du Jianbin, Sun Jing, Baranova Ancha, Zhang Fuquan
Department of Clinical Psychology, Suzhou Guangji Hospital, The Affiliated Guangji Hospital of Soochow University, Suzhou, China.
Department of Psychiatry, Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China.
Front Psychiatry. 2020 Dec 15;11:564277. doi: 10.3389/fpsyt.2020.564277. eCollection 2020.
Schizophrenia (SZ) is a severe chronic mental disorder with complex genetic mechanisms. Brain-derived neurotrophic factor (BDNF) is one of promising candidate genes for SZ, and rs6265 is a non-synonymous single nucleotide polymorphism (SNP) in BDNF. In this study, we performed a case-control association study of rs6265 in a cohort of Han Chinese population from eastern China, including 1,407 SZ patients and 1,136 healthy controls; and carried out a cis-mQTL (Methylation Quantitative Trait Loci) analysis for BDNF rs6265. We found a positive association of rs6265 with SZ ( = 0.037), with the minor allele (A) of rs6265 conferring a protecting effect for SZ (OR = 0.89). Furthermore, cis-mQTL analysis indicates that rs6265 is associated with several methylation loci surrounding BDNF. Together, our findings provide further evidence to support the involvement of BDNF gene in the genesis of SZ.
精神分裂症（SZ）是一种具有复杂遗传机制的严重慢性精神障碍。脑源性神经营养因子（BDNF）是精神分裂症有前景的候选基因之一，而rs6265是BDNF中的一个非同义单核苷酸多态性（SNP）。在本研究中，我们对来自中国东部的汉族人群队列中的rs6265进行了病例对照关联研究，包括1407例精神分裂症患者和1136例健康对照；并对BDNF rs6265进行了顺式甲基化定量性状位点（mQTL）分析。我们发现rs6265与精神分裂症呈正相关（P = 0.037），rs6265的次要等位基因（A）对精神分裂症具有保护作用（OR = 0.89）。此外，顺式mQTL分析表明rs6265与BDNF周围的几个甲基化位点相关。总之，我们的研究结果提供了进一步的证据来支持BDNF基因参与精神分裂症的发生。
