Genetic variant for behavioral regulation factor of executive function and its possible brain mechanism in attention deficit hyperactivity disorder.
Genetic variant for behavioral regulation factor of executive function and its possible brain mechanism in attention deficit hyperactivity disorder.
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注意缺陷多动障碍执行功能行为调节因子的遗传变异及其可能的脑机制
DOI：
10.1038/s41598-018-26042-y
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发表时间：
2018-05-16
影响因子：
4.6
通讯作者：
Wang Y
中科院分区：
文献类型：
--
作者：
Sun X;Wu Z;Cao Q;Qian Y;Liu Y;Yang B;Chang S;Yang L;Wang Y
注意缺陷多动障碍（ADHD）是一种儿童期发病的精神疾病，具有表型和遗传异质性。ADHD的终身执行功能缺陷在许多文献中有描述，并被认为是ADHD的内表型。然而，其遗传基础仍然难以捉摸。在这项研究中，我们进行了全基因组关联研究的执行功能，与执行功能的行为评定量表（BRIEF），在多动症儿童。我们确定了BRIEF总分的一个显著变异（rs 852004，P= 2.51e-08）。对执行功能各成分的关联分析发现，该位点与抑制和监控成分的关联性更强。进一步的主成分分析和验证性因素分析提供了一个包括抑制和监控因子的ADHD特异性执行功能模式。SNP rs 852004主要与行为调节因子相关。同时发现显著位点与ADHD症状相关。行为调节因子介导其对ADHD症状的影响。功能性磁共振成像（fMRI）分析进一步表明，这种变体影响了抑制控制相关大脑区域的活动。它为ADHD执行功能的遗传基础提供了新的见解。
As a childhood-onset psychiatric disorder, attention deficit hyperactivity disorder (ADHD) is complicated by phenotypic and genetic heterogeneity. Lifelong executive function deficits in ADHD are described in many literatures and have been proposed as endophenotypes of ADHD. However, its genetic basis is still elusive. In this study, we performed a genome-wide association study of executive function, rated with Behavioral Rating Inventory of Executive Function (BRIEF), in ADHD children. We identified one significant variant (rs852004,P= 2.51e-08) for the overall score of BRIEF. The association analyses for each component of executive function found this locus was more associated with inhibit and monitor components. Further principle component analysis and confirmatory factor analysis provided an ADHD-specific executive function pattern including inhibit and monitor factors. SNP rs852004 was mainly associated with the Behavioral Regulation factor. Meanwhile, we found the significant locus was associated with ADHD symptom. The Behavioral Regulation factor mediated its effect on ADHD symptom. Functional magnetic resonance imaging (fMRI) analyses further showed evidence that this variant affected the activity of inhibition control related brain regions. It provided new insights for the genetic basis of executive function in ADHD.
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影响因子：
6.4
作者：
Banaschewski, Tobias;Becker, Katja;Scherag, Susann;Franke, Barbara;Coghill, David
通讯作者：
Coghill, David
影响因子：
5.7
作者：
Jenkinson, M;Bannister, P;Smith, S
通讯作者：
Smith, S
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1002/ajmg.b.31246
发表时间：
2011-12-01
影响因子：
2.8
作者：
Hinney, Anke;Scherag, Andre;Hebebrand, Johannes
通讯作者：
Hebebrand, Johannes
影响因子：
5.8
作者：
Gamazon, Eric R.;Zhang, Wei;Cox, Nancy J.
通讯作者：
Cox, Nancy J.