Liu Wenmiao, Guo Yixia, Liu Xiumei, Zhang Ru, Dong Jicheng, Deng Hao, He Fan, Che Fengyuan, Liu Shiguo, Yi Mingji
Medical Genetics Department, The Affiliated Hospital of Qingdao University, Qingdao, People's Republic of China.
Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, People's Republic of China.
Neuropsychiatr Dis Treat. 2020 Jan 31;16:349-354. doi: 10.2147/NDT.S229420. eCollection 2020.
Tourette syndrome (TS) is a childhood-onset neuro-developmental disorder and the genetic factors play an important role in its etiology. As pericentrin (PCNT) binds to disruption-in-schizophrenia 1 (DISC1) and is a risk factor for many mental illnesses, we aimed to investigate the effect of PCNT on TS in the Chinese Han population.
Five tag single nucleotide polymorphisms (SNPs) (rs17371795, rs2839227, rs2839228, rs6518291 and rs9983522) in were screened in 407 TS nuclear family trios and 506 healthy persons by the TaqMan assays real-time. A common case-control study was designed to recognize differences in the genetic distributions. Additionally, we conducted a family based association study including transmission disequilibrium test, haplotype relative risk, and haplotype-based haplotype relative risk for these SNPs.
The allele frequencies revealed a significant difference of rs17371795, rs2839227 and rs2839228 between TS patients and controls (for rs17371795: =0.002, OR=0.691, 95% CI=0.547-0.874; for rs2839227: =0.001, OR=0.682, 95% CI=0.540-0.860; for rs2839228: =0.028, OR=0.775, 95% CI=0.618-0.973) and genotypic distributions showed a positive association only in rs17371795 and rs2839227 (for rs17371795: =0.010; for rs2839227: =0.008). Moreover, only rs2839227 remained significant after Bonferroni correction (<0.01).
Our study suggested genetic variability at the PCNT locus may be associated with TS risk in the Chinese Han population.
抽动秽语综合征（TS）是一种起病于儿童期的神经发育障碍，遗传因素在其病因中起重要作用。由于中心粒蛋白（PCNT）与精神分裂症破坏蛋白1（DISC1）结合，且是多种精神疾病的危险因素，我们旨在研究PCNT在中国汉族人群中对TS的影响。
通过TaqMan实时荧光定量分析技术，在407个TS核心家系三联体和506名健康人中筛选了PCNT基因上的5个标签单核苷酸多态性（SNP）（rs17371795、rs2839227、rs2839228、rs6518291和rs9983522）。设计了一项常见的病例对照研究以识别基因分布的差异。此外，我们对这些SNP进行了基于家系的关联研究，包括传递不平衡检验、单倍型相对风险以及基于单倍型的单倍型相对风险。
等位基因频率显示，TS患者与对照组之间rs17371795、rs2839227和rs2839228存在显著差异（rs17371795：P = 0.002，OR = 0.691，95%CI = 0.547 - 0.874；rs2839227：P = 0.001，OR = 0.682，95%CI = 0.540 - 0.860；rs2839228：P = 0.028，OR = 0.775，95%CI = 0.618 - 0.973），基因型分布仅在rs17371795和rs2839227中显示出正相关（rs17371795：P = 0.010；rs2839227：P = 0.008）。此外，经Bonferroni校正后，只有rs2839227仍具有显著性（P < 0.01）。
我们的研究表明，PCNT基因座的遗传变异可能与中国汉族人群的TS风险相关。
