ASH1L 可能与抽动秽语综合征的风险相关：基于家系分析和病例对照研究的联合分析。
ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.
机构信息
Department of Medical Genetics, The Affiliated Hospital of Qingdao University, Qingdao, China.
Department of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, China.
出版信息
Brain Behav. 2022 Apr;12(4):e2539. doi: 10.1002/brb3.2539. Epub 2022 Mar 20.
OBJECTIVE
Tourette syndrome (TS) is a childhood neurodevelopmental disorder caused by various genetic and environmental factors and presents with apparent genetic heterogeneity. As ASH1L potentially contributes to neurodevelopmental diseases, especially in TS, we aim to investigate the susceptibility of ASH1L on TS in the Chinese Han population.
METHODS
Three tag single nucleotide polymorphisms (SNPs) (rs5005770, rs12734374, and rs35615695) in ASH1L were screened in 271 TS nuclear family trios and 337 healthy subjects by the TaqMan assays real time. A case-control study combined with family-based analysis was applied to study the genetic susceptibility of common variants of ASH1L.
RESULTS
The results revealed a significant over-transmission of rs35615695 and rs5005770 (for rs35615695, transmission disequilibrium test, χ = 57.375, p = .000, HHRR, χ = 4.807, p = .028; for rs5005770, HRR, χ = 4.116, p = .042, HHRR, χ = 8.223, p = .004) in family-based study. Furthermore, rs5005770 and rs35615695 still remained significant after Bonferroni correction (p < .017). However, the two SNPs (rs5005770 and rs35615695) were found not to be associated with TS in case-control study.
CONCLUSIONS
Our study suggests that ASH1L may contribute to TS susceptibility in the Han Chinese population and involved in TS development as a risk factor.
目的
妥瑞氏综合征（TS）是一种由多种遗传和环境因素引起的儿童神经发育障碍，表现出明显的遗传异质性。由于 ASH1L 可能与神经发育疾病有关，特别是在 TS 中，我们旨在研究 ASH1L 在中国汉族人群中对 TS 的易感性。
方法
采用 TaqMan 实时荧光定量 PCR 方法对 271 个 TS 核心家系三体型和 337 名健康对照者进行 ASH1L 三个标签单核苷酸多态性（rs5005770、rs12734374 和 rs35615695）的筛选。应用病例对照研究结合家系分析方法，研究 ASH1L 常见变异的遗传易感性。
结果
结果显示 rs35615695 和 rs5005770 存在明显的过度传递（对于 rs35615695，传递不平衡检验，χ ² = 57.375，p =.000，HHRR，χ ² = 4.807，p =.028；对于 rs5005770，HRR，χ ² = 4.116，p =.042，HHRR，χ ² = 8.223，p =.004）。此外，在基于家系的研究中，rs5005770 和 rs35615695 仍在 Bonferroni 校正后保持显著（p <.017）。然而，在病例对照研究中，这两个 SNP（rs5005770 和 rs35615695）与 TS 无关。
结论
本研究提示 ASH1L 可能与汉族人群 TS 的易感性有关，作为一个危险因素参与 TS 的发病。
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