Liu Wenmiao, Qiu Shiyan, Gao Chuanping, Wang Guiju, Liu Shiguo, Guan Hongzai
Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China; Department of Clinical Hematology, Medical College of Qingdao University, Qingdao, Shandong, China.
Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, China.
Neurosci Lett. 2017 Sep 29;658:161-164. doi: 10.1016/j.neulet.2017.08.041. Epub 2017 Aug 19.
Although Tourette syndrome (TS) is a chronic neuropsychiatric disorder whose pathogenesis remains unclear, genetic factors play an important role in the occurrence and development. A variety of studies have been shown that the candidate genes related to cholinergic neurons may be associated with the onset of TS. To investigate the association between the SLC5A7 polymorphisms and Tourette syndrome (TS) in the Chinese Han population, the SNP rs1013940, rs2433718, and rs4676169 were genotyped in 401 TS trios and 400 controls. The transmission disequilibrium test (TDT) and haplotype relative risk (HRR) compared genetic distributions of trios, while the chi-square test compared patients and controls. However, no transmission disequilibrium was found between the three SLC5A7 SNPs and TS. Therefore, we think that this gene may not be the main risk factor on the onset of TS. However, these results should be further validated in different populations.
尽管抽动秽语综合征（TS）是一种慢性神经精神疾病，其发病机制尚不清楚，但遗传因素在其发生和发展中起着重要作用。各种研究表明，与胆碱能神经元相关的候选基因可能与TS的发病有关。为了研究中国汉族人群中SLC5A7基因多态性与抽动秽语综合征（TS）之间的关联，对401个TS三联体和400名对照进行了SNP rs1013940、rs2433718和rs4676169基因分型。传递不平衡检验（TDT）和单倍型相对风险（HRR）比较了三联体的遗传分布，而卡方检验比较了患者和对照。然而，在三个SLC5A7 SNP与TS之间未发现传递不平衡。因此，我们认为该基因可能不是TS发病的主要危险因素。然而，这些结果应在不同人群中进一步验证。
