• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

色氨酸羟化酶 2 基因多态性与中国汉族人群抽动障碍易感性的关系。

Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population.

机构信息

Department of Neurological medicine, Capital Institute of Pediatrics, Beijing, 100020, China.

出版信息

Behav Brain Funct. 2013 Jan 29;9:6. doi: 10.1186/1744-9081-9-6.

DOI:10.1186/1744-9081-9-6
PMID:23360517
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3573945/
Abstract

BACKGROUND

Tryptophan hydroxylase-2 (TPH2) is a potential candidate gene for screening tic disorder (TD).

METHODS

A case-control study was performed to examine the association between the TPH2 gene and TD. The Sequenom® Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs) of the TPH2 gene in 149 TD children and in 125 normal controls.

RESULTS

For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR) =3.077, 95% confidence interval (CI): 1.273-7.437; P = 0.009], as did male TD children with the TT genotype (OR = 3.228, 95% CI: 1.153-9.040; P = 0.020). The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS) than those in controls among the male children (OR = 1.684, 95%: 1.097-2.583; P = 0.017]. TD children with severe tic symptoms had significantly higher frequencies of rs4546946 TT genotype than did normal controls in boys (OR = 3.292, 95% CI: 1.139-9.513; P = 0.022). We also found that genotype distributions of both SNPs were different between the Asian and European populations.

CONCLUSIONS

Our results indicated that the TT genotype of rs4565946 is a potential genetic risk factor for TD, and the allele G of rs4570625 might be associated with the severity of tic symptoms in boys. These polymorphisms might be susceptibility loci for TD in the Chinese Han population. Because of the confounding of co-existing attention deficit hyperactivity disorder (ADHD),these findings need to be confirmed by studies in much larger samples.

摘要

背景

色氨酸羟化酶 2(TPH2)是筛选抽动障碍(TD)的潜在候选基因。

方法

采用病例对照研究,检测 TPH2 基因与 TD 之间的关联。采用Sequenom® Mass ARRAY iPLEX GOLD 系统对 149 例 TD 患儿和 125 例正常对照的 TPH2 基因的两个单核苷酸多态性(SNP)进行基因分型。

结果

对于 rs4565946,TT 基因型个体患 TD 的风险显著高于 TC+CC 基因型个体[比值比(OR)=3.077,95%置信区间(CI):1.273-7.437;P=0.009],男性 TD 患儿 TT 基因型的 OR=3.228,95%CI:1.153-9.040;P=0.020)。rs4570625 的 G 等位基因在男性 TD 患儿中,耶鲁整体抽动严重程度量表(Yale Global Tic Severity Scale,YGTSS)评分较高的患儿中比对照组更常见(OR=1.684,95%:1.097-2.583;P=0.017)。在男孩中,具有严重抽动症状的 TD 患儿 rs4546946 TT 基因型的频率明显高于正常对照组(OR=3.292,95%CI:1.139-9.513;P=0.022)。我们还发现,这两个 SNP 的基因型分布在亚洲和欧洲人群之间存在差异。

结论

我们的结果表明,rs4565946 的 TT 基因型可能是 TD 的潜在遗传危险因素,rs4570625 的等位基因 G 可能与男孩的抽动症状严重程度有关。这些多态性可能是汉族人群 TD 的易感基因座。由于共患注意缺陷多动障碍(ADHD)的混杂因素,这些发现需要在更大的样本量研究中得到证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf44/3573945/46fda64674de/1744-9081-9-6-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf44/3573945/46fda64674de/1744-9081-9-6-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf44/3573945/46fda64674de/1744-9081-9-6-1.jpg

相似文献

1
Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population.色氨酸羟化酶 2 基因多态性与中国汉族人群抽动障碍易感性的关系。
Behav Brain Funct. 2013 Jan 29;9:6. doi: 10.1186/1744-9081-9-6.
2
Association of tryptophan hydroxylase-2 polymorphisms with oppositional defiant disorder in a Chinese Han population.中国汉族人群中色氨酸羟化酶-2基因多态性与对立违抗障碍的关联
Behav Brain Funct. 2016 Nov 21;12(1):30. doi: 10.1186/s12993-016-0113-0.
3
A case-control association study of serotonin 1A receptor gene and tryptophan hydroxylase 2 gene in attention deficit hyperactivity disorder.注意缺陷多动障碍中 5-羟色胺 1A 受体基因和色氨酸羟化酶 2 基因的病例对照关联研究。
Prog Neuropsychopharmacol Biol Psychiatry. 2010 Aug 16;34(6):974-9. doi: 10.1016/j.pnpbp.2010.05.006. Epub 2010 May 11.
4
Association between TPH2 gene polymorphisms and attention deficit hyperactivity disorder in Korean children.韩国儿童中TPH2基因多态性与注意力缺陷多动障碍之间的关联。
Genet Test Mol Biomarkers. 2013 Apr;17(4):301-6. doi: 10.1089/gtmb.2012.0376. Epub 2013 Mar 5.
5
Association of functional polymorphisms of the human tryptophan hydroxylase 2 gene with risk for bipolar disorder in Han Chinese.人类色氨酸羟化酶2基因功能多态性与汉族双相情感障碍风险的关联。
Arch Gen Psychiatry. 2007 Sep;64(9):1015-24. doi: 10.1001/archpsyc.64.9.1015.
6
Interaction of tryptophan hydroxylase 2 gene and life events in susceptibility to major depression in a Chinese Han population.色氨酸羟化酶 2 基因与生活事件在中国汉族人群中对重度抑郁症易感性的交互作用。
J Affect Disord. 2015 Dec 1;188:304-9. doi: 10.1016/j.jad.2015.07.041. Epub 2015 Aug 22.
7
Association between tryptophan hydroxylase gene polymorphisms and attention deficit hyperactivity disorder in Chinese Han population.中国汉族人群中色氨酸羟化酶基因多态性与注意缺陷多动障碍的关联
Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):126-9. doi: 10.1002/ajmg.b.30260.
8
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.对先前涉及慢性抽动障碍的遗传变异的研究:传递不平衡测试方法。
Eur Arch Psychiatry Clin Neurosci. 2018 Apr;268(3):301-316. doi: 10.1007/s00406-017-0808-8. Epub 2017 May 29.
9
Genetic Variants and Haplotypes of Tryptophan Hydroxylase 2 and Reelin Genes May Be Linked with Attention Deficit Hyperactivity Disorder in Egyptian Children.色氨酸羟化酶 2 和 Reelin 基因的遗传变异和单倍型可能与埃及儿童的注意缺陷多动障碍有关。
ACS Chem Neurosci. 2020 Jul 15;11(14):2094-2103. doi: 10.1021/acschemneuro.0c00136. Epub 2020 Jun 26.
10
Tryptophan hydroxylase 2 gene polymorphisms and poststroke anxiety disorders.色氨酸羟化酶 2 基因多态性与卒中后焦虑障碍。
J Affect Disord. 2013 Jan 10;144(1-2):179-82. doi: 10.1016/j.jad.2012.05.017. Epub 2012 Jul 25.

引用本文的文献

1
Metabolic abnormalities of the cortico‑striato‑thalamo‑cortical circuit of rats with tic disorder.抽动障碍大鼠皮质-纹状体-丘脑-皮质回路的代谢异常
Mol Med Rep. 2025 Aug;32(2). doi: 10.3892/mmr.2025.13592. Epub 2025 Jun 13.
2
Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?与妥瑞氏症相关的候选基因和通路——我们进展如何?
Genes (Basel). 2021 Aug 26;12(9):1321. doi: 10.3390/genes12091321.
3
Randomized controlled clinical trial comparing the efficacy and tolerability of aripiprazole and sodium valproate in the treatment of Tourette syndrome.

本文引用的文献

1
The genetics of Tourette syndrome.图雷特综合征的遗传学。
Nat Rev Neurol. 2012 Mar 13;8(4):203-13. doi: 10.1038/nrneurol.2012.26.
2
Advances in tryptophan hydroxylase-2 gene expression regulation: new insights into serotonin-stress interaction and clinical implications.色氨酸羟化酶 2 基因表达调控的研究进展:对 5-羟色胺-应激相互作用的新认识及其临床意义
Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):152-71. doi: 10.1002/ajmg.b.32023.
3
Tourette syndrome and other tic disorders.抽动秽语综合征及其他抽动障碍
比较阿立哌唑与丙戊酸钠治疗抽动秽语综合征疗效和耐受性的随机对照临床试验。
Ann Gen Psychiatry. 2019 Oct 10;18:24. doi: 10.1186/s12991-019-0245-3. eCollection 2019.
4
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.对先前涉及慢性抽动障碍的遗传变异的研究:传递不平衡测试方法。
Eur Arch Psychiatry Clin Neurosci. 2018 Apr;268(3):301-316. doi: 10.1007/s00406-017-0808-8. Epub 2017 May 29.
5
To Cheat or Not To Cheat: Tryptophan Hydroxylase 2 SNP Variants Contribute to Dishonest Behavior.作弊与否:色氨酸羟化酶2基因单核苷酸多态性变异与不诚实行为有关。
Front Behav Neurosci. 2016 May 2;10:82. doi: 10.3389/fnbeh.2016.00082. eCollection 2016.
6
Advances in molecular genetic studies of attention deficit hyperactivity disorder in China.中国注意力缺陷多动障碍分子遗传学研究进展
Shanghai Arch Psychiatry. 2014 Aug;26(4):194-206. doi: 10.3969/j.issn.1002-0829.2014.04.003.
Handb Clin Neurol. 2011;100:641-57. doi: 10.1016/B978-0-444-52014-2.00046-X.
4
European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment.欧洲抽动秽语综合征和其他抽动障碍临床指南。第一部分:评估。
Eur Child Adolesc Psychiatry. 2011 Apr;20(4):155-71. doi: 10.1007/s00787-011-0164-6.
5
Recent advances in Tourette syndrome.抽动秽语综合征的最新进展。
Curr Opin Neurol. 2011 Apr;24(2):119-25. doi: 10.1097/WCO.0b013e328344648c.
6
Tryptophan hydroxylase-2 (TPH2) in disorders of cognitive control and emotion regulation: a perspective.色氨酸羟化酶 2(TPH2)在认知控制和情绪调节障碍中的作用:一个视角。
Psychoneuroendocrinology. 2011 Apr;36(3):393-405. doi: 10.1016/j.psyneuen.2010.12.012. Epub 2011 Jan 22.
7
Effect of tryptophan hydroxylase-2 gene variants on amygdalar and hippocampal volumes.色氨酸羟化酶-2 基因变异对杏仁核和海马体体积的影响。
Brain Res. 2010 May 17;1331:51-7. doi: 10.1016/j.brainres.2010.03.057. Epub 2010 Mar 21.
8
The genetics of Tourette syndrome: a review.图雷特综合征的遗传学:综述。
J Psychosom Res. 2009 Dec;67(6):533-45. doi: 10.1016/j.jpsychores.2009.06.006. Epub 2009 Sep 30.
9
Clinical phenomenology and phenotype variability in Tourette syndrome.抽动秽语综合征的临床现象学和表型变异性。
J Psychosom Res. 2009 Dec;67(6):491-6. doi: 10.1016/j.jpsychores.2009.07.011.
10
Neurobiological basis of serotonin-dopamine antagonists in the treatment of Gilles de la Tourette syndrome.5-羟色胺-多巴胺拮抗剂治疗抽动秽语综合征的神经生物学基础
Prog Brain Res. 2008;172:495-513. doi: 10.1016/S0079-6123(08)00924-2.