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SLC6A3 基因多态性与注意力功能的发展有关,但与 ADHD 无关。

The SLC6A3 gene polymorphism is related to the development of attentional functions but not to ADHD.

机构信息

Department of Psychology, SWPS University of Social Sciences and Humanities, Warsaw, Poland.

Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland.

出版信息

Sci Rep. 2020 Apr 10;10(1):6176. doi: 10.1038/s41598-020-63296-x.

DOI:10.1038/s41598-020-63296-x
PMID:32277231
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7148317/
Abstract

Neuropharmacological and human clinical studies have suggested that the brain dopaminergic system is substantively involved in normal and pathological phenotypes of attention. Dopamine transporter gene (SLC6A3) was proposed as a candidate gene for Attention-Deficit/Hyperactivity Disorder (ADHD). We investigated the effect of the SLC6A3 variants on cognitive performance in ADHD and healthy children and teenagers. Participants completed cognitive tasks measuring attentional switching, selective and sustained attention, and effectiveness of alerting, orienting and executive attention. We estimated the effects of 40 bp variable number of tandem repeat (VNTR) polymorphism located in the 3' untranslated region (3' UTR) (9-repeat vs 10-repeat allele) of the SLC6A3 gene, ADHD diagnosis, age, and their interactions as predictors of cognitive performance. ADHD children demonstrated deficits in most of the examined attention processes, persistent within the examined age range (9-16 years). No significant effects were observed for the interaction of ADHD and the SLC6A3 polymorphism, but the results revealed a significant main effect of SLC6A3 genotype in the entire research sample. Subjects carrying 9R allele performed the switching task significantly worse in comparison to children with 10R/10R or 10R/11R genotype. SLC6A3 polymorphism moderated age-related improvements in orienting and attentional switching. Results suggest that SLC6A3 genotype influence these attentional/cognitive functions which deficits are not the key symptoms in ADHD.

摘要

神经药理学和人体临床研究表明,大脑多巴胺能系统与注意的正常和病理表型密切相关。多巴胺转运体基因(SLC6A3)被提议为注意缺陷多动障碍(ADHD)的候选基因。我们研究了 SLC6A3 变体对 ADHD 和健康儿童和青少年认知表现的影响。参与者完成了测量注意力转换、选择性和持续性注意以及警觉、定向和执行注意效果的认知任务。我们估计了位于 SLC6A3 基因 3'非翻译区(3'UTR)中的 40bp 可变数串联重复(VNTR)多态性(9 重复与 10 重复等位基因)、ADHD 诊断、年龄及其相互作用作为认知表现预测因子的影响。ADHD 儿童在大多数被检查的注意力过程中表现出缺陷,且在被检查的年龄范围内(9-16 岁)持续存在。ADHD 和 SLC6A3 多态性之间的相互作用没有观察到显著影响,但结果显示 SLC6A3 基因型在整个研究样本中存在显著的主要影响。携带 9R 等位基因的受试者在转换任务中的表现明显比携带 10R/10R 或 10R/11R 基因型的儿童差。SLC6A3 多态性调节了定向和注意力转换的年龄相关改善。结果表明,SLC6A3 基因型影响这些注意力/认知功能,而这些缺陷不是 ADHD 的主要症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/945c190e8d8a/41598_2020_63296_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/482943e0409d/41598_2020_63296_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/e1719423b95e/41598_2020_63296_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/f07d1ebff3e6/41598_2020_63296_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/2588bb71f8c6/41598_2020_63296_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/8b16791a864c/41598_2020_63296_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/945c190e8d8a/41598_2020_63296_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/482943e0409d/41598_2020_63296_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/e1719423b95e/41598_2020_63296_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/f07d1ebff3e6/41598_2020_63296_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/2588bb71f8c6/41598_2020_63296_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/8b16791a864c/41598_2020_63296_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ff/7148317/945c190e8d8a/41598_2020_63296_Fig6_HTML.jpg

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