Gao Ming, Lin Haisheng, Li Bingxiao, Wen Junjie, Wang Yingying, Zhang Zhanhui, Chen Wenxiong
Department of Neurology, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, 510630, People's Republic of China.
Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, 510120, People's Republic of China.
Neuropsychiatr Dis Treat. 2022 Feb 2;18:155-161. doi: 10.2147/NDT.S340197. eCollection 2022.
Tic disorders (TDs) are highly polygenic and heritable neurodevelopmental disorders characterized by the presence of movements (motor tics) and/or vocalizations (phonic tics). is a pathogenic variation of TD, and in a recent genome-wide association study in those of European ancestry, a single-nucleotide polymorphism (rs2504235) in the gene was significantly associated with TDs/Tourette's syndrome. However, these results need to be proved in different populations. This study aimed to determine whether these two genetic variants were also associated with TD patients in south China.
A total of 116 child TD patients and 114 healthy controls were included. All children underwent peripheral blood sampling for genomic DNA extraction. Gene fragments with two single-nucleotide polymorphisms were amplified by PCR and sequenced by Sanger chain termination before genotype analysis.
var321 was not observed in any of the TD patients or controls. No significant difference was observed in allelic frequencies or genotypic distributions of rs2504235 between TD patients and controls.
Our results provide no evidence to support the previous conclusion that var321 plays a major role in TDs, and rs2504235 was not significantly associated with TDs in our cohort.
抽动障碍(TDs)是高度多基因且具有遗传性的神经发育障碍,其特征为存在运动性抽动(运动抽动)和/或发声性抽动(发声抽动)。[具体基因名称]的变异是TD的一种致病变异,在最近一项针对欧洲血统人群的全基因组关联研究中,该基因中的一个单核苷酸多态性(rs2504235)与TDs/妥瑞氏综合征显著相关。然而,这些结果需要在不同人群中得到验证。本研究旨在确定这两种基因变异是否也与中国南方的TD患者相关。
共纳入116例儿童TD患者和114例健康对照。所有儿童均接受外周血采样以提取基因组DNA。在进行基因型分析之前,通过聚合酶链反应(PCR)扩增具有两个单核苷酸多态性的基因片段,并采用桑格链终止法进行测序。
在任何TD患者或对照中均未观察到var321。TD患者与对照之间,rs2504235的等位基因频率或基因型分布未观察到显著差异。
我们的结果没有提供证据支持先前关于[具体基因名称]var321在TDs中起主要作用的结论,并且在我们的队列中,rs2504235与TDs无显著关联。