Key Laboratory of Environment and Health, Ministry of Education and Ministry of Environmental Protection, Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, No. 13, Hangkong Road, Wuhan, 430030, Hubei, People's Republic of China.
J Neural Transm (Vienna). 2022 Apr;129(4):431-439. doi: 10.1007/s00702-022-02490-9. Epub 2022 Mar 31.
Myocyte enhancer factor 2C (MEF2C) is associated with hyperactivity and might be a novel risk gene for susceptibility to attention deficit hyperactivity disorder (ADHD). Therefore, this study aimed to explore the association between MEF2C genetic variants and ADHD in the Chinese Han population. A total of 215 patients with ADHD and 233 controls were recruited for this study. The Swanson, Nolan, and Pelham version IV questionnaire was used to evaluate the clinical features of ADHD. In silico analysis was used to annotate the biological functions of the promising single nucleotide polymorphisms. Our findings indicated that MEF2C rs587490 was significantly associated with ADHD in the multiplicative model (OR = 0.640, p = 0.002). Participants with the rs587490 TT allele exhibited less hyperactivity/impulsivity than those with the rs587490 CC allele. Furthermore, the expression quantitative trait loci analysis suggested that rs587490 could regulate the gene expression of MEF2C in the hippocampus, putamen, thalamus, and frontal white matter. Our study concluded that the MEF2C rs587490 T allele is significantly associated with a reduced risk of ADHD in the Chinese Han population, which provides new insight into the genetic etiology of ADHD.
肌细胞增强因子 2C（MEF2C）与多动有关，可能是易患注意缺陷多动障碍（ADHD）的新风险基因。因此，本研究旨在探讨中国汉族人群中 MEF2C 遗传变异与 ADHD 的关系。共招募了 215 名 ADHD 患者和 233 名对照者进行这项研究。采用 Swanson、Nolan 和 Pelham 第四版问卷评估 ADHD 的临床特征。采用生物信息学分析对有前途的单核苷酸多态性的生物学功能进行注释。我们的研究结果表明，MEF2C rs587490 在乘法模型中与 ADHD 显著相关（OR=0.640，p=0.002）。与 rs587490 CC 等位基因相比，rs587490 TT 等位基因携带者的多动/冲动性较低。此外，表达数量性状基因座分析表明，rs587490 可以调节海马体、纹状体、丘脑和额叶白质中 MEF2C 的基因表达。本研究得出结论，MEF2C rs587490 T 等位基因与中国汉族人群 ADHD 风险降低显著相关，为 ADHD 的遗传病因学提供了新的见解。
