University of São Paulo Medical School, São Paulo, Brazil.
J Atten Disord. 2011 May;15(4):305-9. doi: 10.1177/1087054710365989. Epub 2010 Mar 23.
To investigate a possible association between a 3'UTR VNTR polymorphism of the dopamine transporter gene (SLC6A3) and ADHD in a Brazilian sample of adult patients.
Study Case-control with 102 ADHD adult outpatients ( DSM-IV criteria) and 479 healthy controls. The primers' sequence used were: 3'UTR-Forward: 5' TGT GGT GAT GGG AAC GGC CTG AG 3' and 3'UTR-Reverse: 5' CTT CCT GGA GGT CAC GGC TCA AGG 3'. Alleles of the 3'UTR were coded according to their number of repeats: 6- repeat 320 bp (allele 6), 8- repeat 400 bp (allele 8), 9- repeat 440 bp (allele 9), 10- repeat 480 bp (allele 10), and 11- repeat 520 bp (allele 11).
There were no allelic (χ(2) = 2.67, 5df, p = .75) and genotypic (χ(2) = 7.20, 1 df, p = .61) association between adult ADHD and VNTR 3'UTR polymorphism of SLC6A3.
Our findings do not support SLC6A3 as marker genetic susceptibility factor in adult ADHD. More comprehensive polymorphism coverage within the SLC6A3 region should be conducted in larger samples, including comparisons in clinical subgroups, and in samples with different ethnic backgrounds.
在巴西成年患者样本中研究多巴胺转运蛋白基因(SLC6A3)3'UTR 可变数串联重复序列多态性与 ADHD 之间的可能关联。
采用病例对照研究,纳入 102 例成年 ADHD 门诊患者(DSM-IV 标准)和 479 名健康对照者。使用的引物序列为:3'UTR-Forward:5' TGT GGT GAT GGG AAC GGC CTG AG 3'和 3'UTR-Reverse:5' CTT CCT GGA GGT CAC GGC TCA AGG 3'。根据重复次数对 3'UTR 等位基因进行编码:6-重复 320 bp(等位基因 6)、8-重复 400 bp(等位基因 8)、9-重复 440 bp(等位基因 9)、10-重复 480 bp(等位基因 10)和 11-重复 520 bp(等位基因 11)。
成人 ADHD 与 SLC6A3 3'UTR 多态性之间不存在等位基因(χ²=2.67,5df,p=0.75)和基因型(χ²=7.20,1df,p=0.61)关联。
我们的研究结果不支持 SLC6A3 作为成人 ADHD 的遗传易感性标记基因。在更大的样本中,包括临床亚组的比较和不同种族背景的样本中,应进行更全面的 SLC6A3 区域多态性覆盖,以进一步研究。