Suppr超能文献

抽动秽语综合征与多巴胺D3受体基因rs6280之间的关联。

Association between Tourette syndrome and the dopamine D3 receptor gene rs6280.

作者信息

He Fan, Zheng Yi, Huang Huan-Huan, Cheng Yu-Hang, Wang Chuan-Yue

机构信息

Department of Psychiatry, Beijing Anding Hospital, Capital Medical University; Center of Schizophrenia, Beijing Institute for Brain Disorders, Beijing 100088, China.

出版信息

Chin Med J (Engl). 2015 Mar 5;128(5):654-8. doi: 10.4103/0366-6999.151665.

Abstract

BACKGROUND

Tourette syndrome (TS) is a complex, heterozygous genetic disorder. The number of molecular genetic studies have investigated several candidate genes, particularly those implicated in the dopamine system. The dopamine D3 receptor (DRD3) gene has been considered as a candidate gene in TS. There was not any report about the association study of TS and DRD3 gene in Han Chinese population. We combined a case-control genetic association analysis and nuclear pedigrees transmission disequilibrium test (TDT) analysis to investigate the association between DRD3 gene rs6280 single nucleotide polymorphisms (SNPs) and TS in a Han Chinese population.

METHODS

A total of 160 TS patients was diagnosed by the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. The DRD3 gene rs6280 SNPs were genotyped by TaqMan SNP genotyping assay technique in all subjects. We used a case-control genetic association analysis to compare the difference in genotype and allele frequencies between 160 TS patients and 90 healthy controls. At the same time, we used TDT analysis to identify the DRD3 gene rs6280 transmission disequilibrium among 101 nuclear pedigrees.

RESULTS

The genotype and allele frequency of DRD3 gene rs6280 SNPs had no statistical difference between control group (90) and TS group (160) (χ2 = 3.647, P = 0.161; χ2 = 0.643, P = 0.423) using Chi-squared test. At the basis of the 101 nuclear pedigrees, TDT analysis showed no transmission disequilibrium of DRD3 gene rs6280 SNPs (χ2 = 0; P = 1).

CONCLUSIONS

Our findings provide no evidence for an association between DRD3 gene rs6280 and TS in the Han Chinese population.

摘要

背景

抽动秽语综合征(TS)是一种复杂的杂合子遗传疾病。多项分子遗传学研究对多个候选基因进行了调查,特别是那些与多巴胺系统相关的基因。多巴胺D3受体(DRD3)基因被认为是TS的一个候选基因。在汉族人群中,尚未有关于TS与DRD3基因关联研究的报道。我们结合病例对照遗传关联分析和核心家系传递不平衡检验(TDT)分析,来研究汉族人群中DRD3基因rs6280单核苷酸多态性(SNP)与TS之间的关联。

方法

根据《精神疾病诊断与统计手册》第四版的诊断标准,共诊断出160例TS患者。采用TaqMan SNP基因分型检测技术对所有受试者的DRD3基因rs6280 SNP进行基因分型。我们使用病例对照遗传关联分析来比较160例TS患者和90例健康对照之间基因型和等位基因频率的差异。同时,我们使用TDT分析来确定101个核心家系中DRD3基因rs6280的传递不平衡情况。

结果

使用卡方检验,对照组(90例)和TS组(160例)之间DRD3基因rs6280 SNP的基因型和等位基因频率无统计学差异(χ2 = 3.647,P = 0.161;χ2 = 0.643,P = 0.423)。基于101个核心家系,TDT分析显示DRD3基因rs6280 SNP无传递不平衡(χ2 = 0;P = 1)。

结论

我们的研究结果没有提供证据表明汉族人群中DRD3基因rs6280与TS之间存在关联。

相似文献

本文引用的文献

1
The genetic basis of Gilles de la Tourette Syndrome.图雷特综合征的遗传学基础。
Neurosci Biobehav Rev. 2013 Jul;37(6):1026-39. doi: 10.1016/j.neubiorev.2013.01.016. Epub 2013 Jan 17.
5
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.
7
Tourette syndrome and obsessive-compulsive disorder.抽动秽语综合征和强迫症。
Brain Dev. 2008 Apr;30(4):231-7. doi: 10.1016/j.braindev.2007.09.001. Epub 2007 Oct 15.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验