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血清素转运体基因（SLC6A4）的功能性变体调节注意缺陷多动障碍男孩及其兄弟姐妹的冲动选择。

A functional variant of the serotonin transporter gene (SLC6A4) moderates impulsive choice in attention-deficit/hyperactivity disorder boys and siblings.

机构信息

Developmental Brain-Behaviour Laboratory, School of Psychology, University of Southampton, Southampton, United Kingdom.

出版信息

Biol Psychiatry. 2011 Aug 1;70(3):230-6. doi: 10.1016/j.biopsych.2011.01.040. Epub 2011 Apr 17.

DOI:10.1016/j.biopsych.2011.01.040
PMID:21497794
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3134592/
Abstract

BACKGROUND

Impulsive drive for immediate reward (IDIR) and delay aversion are dissociable elements of the preference for immediate over delayed rewards seen in attention-deficit/hyperactivity disorder (ADHD). We hypothesized that IDIR would be associated with dopamine regulating genes and delay aversion would be associated with serotonin-regulating genes.

METHODS

Impulsive drive for immediate reward and delay aversion were measured in 459 male children and adolescents (328 ADHD and 131 unaffected siblings) with a laboratory choice task. The sample was genotyped for the 5HTT (SLC6A4) promoter serotonin-transporter-linked polymorphic region polymorphism and a DAT1 (SLC6A3) 40-base pair variable number tandem repeat located in the 3'-untranslated region of the gene.

RESULTS

There was no effect of dopamine transporter (DAT)1 on IDIR. As predicted, serotonin-transporter-linked polymorphic region s-allele carriers were more delay averse. This effect was driven by the s/l genotype in the ADHD group. These results were not altered by taking account of the rs25531 A/G single nucleotide polymorphism and were independent of age, IQ, and oppositional defiant disorder symptoms.

CONCLUSIONS

The results support the genetic distinctiveness of IDIR and delay aversion in ADHD and implicate serotonin function in delay aversion. Possible explanations of the heterosis effect in the ADHD cases are presented.

摘要

背景

冲动性即时奖励寻求（IDIR）和延迟厌恶是注意力缺陷/多动障碍（ADHD）中即时奖励偏好与延迟奖励偏好分离的两个要素。我们假设 IDIR 与多巴胺调节基因有关，而延迟厌恶与 5-羟色胺调节基因有关。

方法

采用实验室选择任务，对 459 名男性儿童和青少年（328 名 ADHD 患者和 131 名未受影响的兄弟姐妹）进行即时奖励寻求冲动性和延迟厌恶的测量。对 5-羟色胺转运体（SLC6A4）启动子 5-羟色胺转运体连接多态区多态性和位于基因 3'非翻译区的多巴胺转运体（DAT1）（SLC6A3）40 个碱基对可变数串联重复进行基因分型。

结果

多巴胺转运体（DAT）1 对 IDIR 没有影响。正如预期的那样，5-羟色胺转运体连接多态区 s 等位基因携带者延迟厌恶感更强。这种效应是由 ADHD 组中的 s/l 基因型驱动的。考虑到 rs25531 A/G 单核苷酸多态性和年龄、智商和对立违抗障碍症状后，这些结果并没有改变，并且与年龄、智商和对立违抗障碍症状无关。

结论

这些结果支持 ADHD 中 IDIR 和延迟厌恶的遗传独特性，并暗示 5-羟色胺功能与延迟厌恶有关。提出了 ADHD 病例杂种优势效应的可能解释。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a797/3134592/2b5c0b75396f/nihms281670f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a797/3134592/91f7e9187621/nihms281670f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a797/3134592/2b5c0b75396f/nihms281670f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a797/3134592/91f7e9187621/nihms281670f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a797/3134592/2b5c0b75396f/nihms281670f2.jpg

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Genes Brain Behav. 2010 Jul;9(5):449-58. doi: 10.1111/j.1601-183X.2010.00567.x. Epub 2010 Jan 25.
3
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4
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5
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6
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