Medical Genetics Department, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
The Prenatal diagnosis center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
J Gene Med. 2020 Jun;22(6):e3173. doi: 10.1002/jgm.3173. Epub 2020 Mar 2.
Tourette syndrome (TS) is a complex neuropsychiatric disorder coupled with obvious genetic heterogeneity. Studies in recent years have confirmed the association of SLITRK genes with sensory and neuropsychiatric diseases. To detect whether SLITRK6 is involved in the progress of TS, a family-based association study was performed to explore the possible genetic association between SLITRK6 and TS in the Chinese Han population.
We genotyped 399 TS nuclear families trios, and then analyzed three tag SLITRK6 single nucleotide polymorphisms using the transmission disequilibrium test (TDT) haplotype relative risk (HRR) and haplotype-based haplotype relative risk (HHRR) methods.
The TDT showed no statistically significant allele transfer for the three polymorphisms. The HRR and HHRR also showed a negative association.
Despite the results suggesting that these polymorphisms may not be associated with susceptibility to TS in the Chinese Han population, we are still unable to determine the potential role of SLITRK6 in the pathogenesis of TS. Furthermore, the results still need to be confirmed in a larger sample size and in different populations.
抽动秽语综合征（TS）是一种复杂的神经精神疾病，具有明显的遗传异质性。近年来的研究证实，SLITRK 基因与感觉和神经精神疾病有关。为了检测 SLITRK6 是否参与 TS 的进展，进行了一项基于家系的关联研究，以探讨 SLITRK6 与中国汉族人群 TS 之间可能的遗传关联。
我们对 399 个 TS 核心家庭三体进行了基因分型，然后使用传递不平衡检验（TDT）单倍型相对风险（HRR）和基于单倍型的单倍型相对风险（HHRR）方法分析了三个标签 SLITRK6 单核苷酸多态性。
TDT 显示三个多态性的等位基因转移没有统计学意义。HRR 和 HHRR 也显示出阴性关联。
尽管结果表明这些多态性可能与中国汉族人群 TS 的易感性无关，但我们仍无法确定 SLITRK6 在 TS 发病机制中的潜在作用。此外，这些结果仍需要在更大的样本量和不同人群中进行验证。
