5-羟色胺转运体基因启动子多态性对注意缺陷多动障碍儿童静息态脑功能的影响

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摘要目的：探讨5-羟色胺转运体基因启动子多态性（5-HTTLPR）对注意缺陷多动障碍（ADHD）静息态低频震荡振幅（ALFF）的影响。方法：对51例ADHD儿童（ADHD组）与37例正常对照儿童（对照组）进行3.0T磁共振功能影像学检查，采用ALFF评估静息态脑功能；并应用限制性片段长度多态性的方法检测外周血5-HTTLPR。结果：ADHD组在左内上前额叶、右楔前叶、左楔前叶脑区ALFF值高于对照组，差异有统计学意义（P＜0.01）；5-HTTLPR各基因亚型在左内上前额叶、左楔前叶脑区ALFF值不同，差异有统计学意义（P＜0.01）；S/S基因型ALFF值高于L/L基因型，差异有统计学意义（P＜0.001）；S/L基因型ALFF值高于L/L基因型，差异有统计学意义（P＜0.001）；S/S基因型ALFF值与S/L基因型相比，差异无统计学意义（P＞0.05）；ADHD组5-HTTLPR的L/L、S/L、S/S基因型频率（分别为3.9%、41.2%、54.9%）和S、L等位基因频率（分别为40.7%、59.3%）与正常对照组L/L、S/L、S/S基因型频率（分别为5.4%、37.8%、56.8%）和S、L等位基因频率（分别为36.4%、54.6%）相比，差异无统计学意义（P＞0.05）。结论：S等位基因与ADHD静息态脑功能活动存在关联。

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	陈宏
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关键词 ：注意缺陷多动障碍, 5-羟色胺转运体基因启动子多态性, 静息态, 功能性核磁共振

Abstract：Objective: To explore the impact of serotonin transporter gene linked polymorphism region (5-HTTLPR) on the rest-state brain activities of amplitude of low frequency fluctuation (ALFF) in children with attention deficit hyperactivity disorder (ADHD). Methods: Fifty-one children with ADHD and thirty-seven normal controls were checked up by resting state functional magnetic resonance scanner. The ALFF approach was used to analyse the brain function in resting state. Restriction fragment length polymorphism (RFLP) method was applied to detect 5-HTTLPR. Results: Compared with the normal controls, ADHD showed decreased ALFF in left median superior frontal lobe, right precuneus, and left precuneus. Compared with each other among gene subtypes of 5-HTTLPR, there was diferent ALFF value in left median superior frontal lobe and left precuneus. Post hoc analysis showed ALFF value of S/S genotype was higher than L/L genotype, S/L genotype higher than that of L/L genotype, and there was no statistically significant difference between S/L genotype and S/S genotype. There were no statistically significant differences in the frequencies of the genotypes and alles of 5-HTTLPR between ADHD (L/L, S/L, S/S genotypes: 3.9%, 41.2% and 54.9%; S, L allels: 40.7%, 59.3%) and normal controls (L/L, S/L, S/S genotypes: 5.4%, 37.8% and 56.8%; S, L allels: 36.4%, 54.6%). Conclusion: S allele activity is associated with altered activities in particular brain regions of ADHD children.

Key words： attention deficit hyperactivity disorder serotonin transporter gene linked polymorphism region rest state functional magnetic resonance imaging

收稿日期: 2016-12-29

基金资助:国家自然科学基金资助项目（63701070）；浙江省自然科学基金资助项目（LY14H090012）；温州市科技计划项目（Y20130163，Y20140399）。

通讯作者: 杨闯，副主任医师，Email：dryangchuang@163.com。

作者简介: 陈宏（1976-），男，浙江瑞安人，主治医师，硕士。

链接本文:

https://xb.wmu.edu.cn/CN/ 或 https://xb.wmu.edu.cn/CN/Y2017/V47/I4/244