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本文引用的文献

1
No association between the DAT1 10-repeat allele and ADHD in the Iranian population.在伊朗人群中，DAT1基因10次重复等位基因与注意力缺陷多动障碍之间无关联。
Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):110-1. doi: 10.1002/ajmg.b.30578.
2
Advances in genetic findings on attention deficit hyperactivity disorder.注意缺陷多动障碍的遗传学研究进展
Psychol Med. 2007 Dec;37(12):1681-92. doi: 10.1017/S0033291707000773. Epub 2007 May 17.
3
A meta-analysis of association studies between the 10-repeat allele of a VNTR polymorphism in the 3'-UTR of dopamine transporter gene and attention deficit hyperactivity disorder.多巴胺转运体基因3'-UTR区VNTR多态性10重复等位基因与注意缺陷多动障碍关联研究的荟萃分析。
Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):541-50. doi: 10.1002/ajmg.b.30453.
4
A promoter polymorphism (-839 C > T) at the dopamine transporter gene is associated with attention deficit/hyperactivity disorder in Brazilian children.多巴胺转运体基因的一个启动子多态性位点（-839 C>T）与巴西儿童的注意力缺陷多动障碍有关。
Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):215-9. doi: 10.1002/ajmg.b.30428.
5
Candidate gene studies of attention-deficit/hyperactivity disorder.注意缺陷多动障碍的候选基因研究。
J Clin Psychiatry. 2006;67 Suppl 8:13-20.
6
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.《精神疾病诊断与统计手册》第四版中注意缺陷多动障碍混合型51个基因的分析：多巴胺受体D4基因（DRD4）、多巴胺转运体1基因（DAT1）及其他16个基因中的关联信号
Mol Psychiatry. 2006 Oct;11(10):934-53. doi: 10.1038/sj.mp.4001869. Epub 2006 Aug 8.
7
Attention-deficit/hyperactivity disorder (ADHD) association with the DAT1 core promoter -67 T allele.注意力缺陷多动障碍（ADHD）与多巴胺转运体1（DAT1）核心启动子-67 T等位基因的关联。
Brain Res. 2006 Jul 26;1101(1):1-4. doi: 10.1016/j.brainres.2006.05.024. Epub 2006 Jun 19.
8
A common haplotype of the dopamine transporter gene associated with attention-deficit/hyperactivity disorder and interacting with maternal use of alcohol during pregnancy.一种与注意力缺陷多动障碍相关且在孕期与母亲饮酒存在相互作用的多巴胺转运体基因常见单倍型。
Arch Gen Psychiatry. 2006 Jan;63(1):74-81. doi: 10.1001/archpsyc.63.1.74.
9
The variable number of tandem repeats element in DAT1 regulates in vitro dopamine transporter density.多巴胺转运体1基因中的可变数目串联重复序列元件调节体外多巴胺转运体密度。
BMC Genet. 2005 Nov 27;6:55. doi: 10.1186/1471-2156-6-55.
10
A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs.对155对德国同胞双胞胎进行的注意力缺陷多动障碍全基因组扫描。
Mol Psychiatry. 2006 Feb;11(2):196-205. doi: 10.1038/sj.mp.4001761.

注意缺陷多动障碍中多巴胺转运体基因启动子多态性的关联研究

Association study of promoter polymorphisms at the dopamine transporter gene in Attention Deficit Hyperactivity Disorder.

作者信息

Xu Xiaohui, Mill Jonathan, Sun Bo, Chen Chih-Ken, Huang Yu-Shu, Wu Yu-Yu, Asherson Philip

机构信息

MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, UK.

出版信息

BMC Psychiatry. 2009 Feb 5;9:3. doi: 10.1186/1471-244X-9-3.

DOI:10.1186/1471-244X-9-3
PMID:19196467
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2644291/
Abstract

BACKGROUND

Attention deficit hyperactivity disorder (ADHD) is a complex neurobehavioral disorder. The dopamine transporter gene (DAT1/SLC6A3) has been considered a good candidate for ADHD. Most association studies with ADHD have investigated the 40-base-pair variable number of tandem repeat (VNTR) polymorphism in the 3'-untranslated region of DAT1. Only few studies have reported association between promoter polymorphisms of the gene and ADHD.

METHODS

To investigate the association between the polymorphisms -67A/T (rs2975226) and -839C/T (rs2652511) in promoter region of DAT1 in ADHD, two samples of ADHD patients from the UK (n = 197) and Taiwan (n = 212) were genotyped, and analysed using within-family transmission disequilibrium test (TDT).

RESULTS

A significant association was found between the T allele of promoter polymorphism -67A/T and ADHD in the Taiwanese population (P = 0.001). There was also evidence of preferential transmission of the T allele of -67A/T polymorphism in combined samples from the UK and Taiwan (P = 0.003). No association was detected between the -839C/T polymorphism and ADHD in either of the two populations.

CONCLUSION

The finding suggests that genetic variation in the promoter region of DAT1 may be a risk factor in the development of ADHD.

摘要

背景

注意力缺陷多动障碍（ADHD）是一种复杂的神经行为障碍。多巴胺转运体基因（DAT1/SLC6A3）被认为是ADHD的一个良好候选基因。大多数关于ADHD的关联研究都调查了DAT1基因3'-非翻译区40个碱基对的可变串联重复序列（VNTR）多态性。只有少数研究报道了该基因启动子多态性与ADHD之间的关联。

方法

为了研究ADHD患者中DAT1基因启动子区域多态性-67A/T（rs2975226）和-839C/T（rs2652511）之间的关联，对来自英国（n = 197）和台湾（n = 212）的两个ADHD患者样本进行基因分型，并使用家系内传递不平衡检验（TDT）进行分析。

结果

在台湾人群中，启动子多态性-67A/T的T等位基因与ADHD之间存在显著关联（P = 0.001）。在来自英国和台湾的合并样本中，也有证据表明-67A/T多态性的T等位基因存在优先传递（P = 0.003）。在两个人群中，均未检测到-839C/T多态性与ADHD之间的关联。

结论

该发现表明DAT1基因启动子区域的遗传变异可能是ADHD发生发展的一个危险因素。