Asherson Philip, Brookes Keeley, Franke Barbara, Chen Wai, Gill Michael, Ebstein Richard P, Buitelaar Jan, Banaschewski Tobias, Sonuga-Barke Edmund, Eisenberg Jacques, Manor Iris, Miranda Ana, Oades Robert D, Roeyers Herbert, Rothenberger Aribert, Sergeant Joseph, Steinhausen Hans-Christoph, Faraone Stephen V
MRC Social Genetic Developmental and Psychiatry Centre, Institute of Psychiatry, London, SE5 8AF UK.
Am J Psychiatry. 2007 Apr;164(4):674-7. doi: 10.1176/ajp.2007.164.4.674.
The primary purpose of this study was to confirm the association of a specific haplotype of the dopamine transporter gene and attention deficit hyperactivity disorder (ADHD), which could be one source of the heterogeneity seen across published studies.
The authors previously reported the association of ADHD with a subgroup of chromosomes containing specific alleles of two variable-number tandem repeat polymorphisms within the 3' untranslated region and intron 8 of the dopamine transporter gene. They now report on this association in a sample of ADHD combined-type probands.
The original observations were confirmed, with an overall odds ratio of 1.4 across samples.
These data challenge results of meta-analyses suggesting that dopamine transporter variation does not have an effect on the risk for ADHD, and they indicate that further investigation of functional variation in the gene is required.
本研究的主要目的是证实多巴胺转运体基因的一种特定单倍型与注意力缺陷多动障碍(ADHD)之间的关联,这可能是已发表研究中所见异质性的一个来源。
作者之前报道了ADHD与一组染色体的关联,该组染色体包含多巴胺转运体基因3'非翻译区和第8内含子中两个可变数目串联重复多态性的特定等位基因。他们现在报告在ADHD混合型先证者样本中的这种关联。
原始观察结果得到证实,各样本的总体优势比为1.4。
这些数据对荟萃分析的结果提出了挑战,荟萃分析表明多巴胺转运体变异对ADHD风险没有影响,并且表明需要对该基因的功能变异进行进一步研究。