ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.
ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.
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DOI：
10.1002/brb3.2539
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发表时间：
2022-04
影响因子：
3.1
通讯作者：
Zheng, Xueping
中科院分区：
文献类型：
--
作者：
Liu, Wenmiao;Xu, Lulu;Zhang, Cheng;Shen, Lu;Dong, Jicheng;Zhang, Han;Liu, Shiguo;Che, Fengyuan;Zheng, Xueping
Tourette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，具有明显的遗传异质性。由于Ash1可能导致神经发育疾病，尤其是TS，我们的目的是研究Ash1在中国汉族人群中对TS的易感性。应用TaqMan实时定量分析技术，对271个TS核心家系和337名健康受试者的Ash1基因3个标签单核苷酸多态(rs5005770、rs12734374和rs35615695)进行了筛查。采用病例对照研究和家系分析相结合的方法，研究Ash1常见变异体的遗传易感性。结果显示，在以家庭为基础的研究中，rs35615695和rs5005770存在显著的过度传播(对于rs35615695，传递不平衡检验，χ2χ=57.375，p=0.000，hhrr，χ2=，p=0.028；对于rs5005770，hrr，χ2χ=4.116，p=0.042，hhrr，hhrr，2=，p=0.004)。此外，在Bonferroni修正后，rs5005770和rs35615695仍然显著(p<；10.017)。然而，病例对照研究发现这两个SNPs(rs5005770和rs35615695)与TS无关。我们的研究表明，Ash1基因可能是中国汉族人群TS的易感基因，并作为一个危险因素参与了TS的发生。多发性抽动症是一种儿童神经发育障碍，由多种遗传和环境因素引起，具有明显的遗传异质性。由于Ash1可能导致神经发育疾病，尤其是TS，我们的目的是研究Ash1在中国汉族人群中对TS的易感性。应用TaqMan实时定量分析技术，对271个TS核心家系和337名健康受试者的Ash1基因3个标签单核苷酸多态(rs5005770、rs12734374和rs35615695)进行了筛查。采用病例对照研究和家系分析相结合的方法，研究Ash1常见变异的遗传易感性。我们的研究提示，Ash1基因可能是中国汉族人TS的易感基因，并可能是TS发病的危险因素之一。
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. 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. The results revealed a significant over‐transmission of rs35615695 and rs5005770 (for rs35615695, transmission disequilibrium test, χ 2 = 57.375, p = .000, HHRR, χ 2 = 4.807, p = .028; for rs5005770, HRR, χ 2 = 4.116, p = .042, HHRR, χ 2 = 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. Our study suggests that ASH1L may contribute to TS susceptibility in the Han Chinese population and involved in TS development as a risk factor. Tourette syndrome is a childhood neurodevelopmental disorder, caused by a variety of genetic and environmental factors and presents with obvious 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. 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 combination of case–control study with family‐based analysis was applied to study the genetic susceptibility of common variants of ASH1L. Our study suggests that Ash1L may contribute to TS susceptibility in the Han Chinese population and as a risk factor involved in the development of TS.
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