The cognitive genetics of attention deficit hyperactivity disorder (ADHD): Sustained attention as a candidate phenotype
The cognitive genetics of attention deficit hyperactivity disorder (ADHD): Sustained attention as a candidate phenotype
复制标题
DOI：
10.1016/s0010-9452(08)70426-x
复制
发表时间：
2006-08-01
期刊：
影响因子：
3.6
通讯作者：
Robertson, Ian H.
中科院分区：
文献类型：
--
作者：
Bellgrove, Mark A.;Hawi, Ziarih;Robertson, Ian H.
在这里，我们描述了认知遗传学在注意力缺陷多动障碍（ADHD）研究中的应用。认知遗传学在很大程度上要归功于约翰·马歇尔等认知神经心理学家的开创性工作，他们对脑损伤患者之间认知分离的仔细观察极大地推进了对正常认知功能的理论理解。这些理论反过来有助于限制候选基因和认知过程之间的联系，从而有助于以假设驱动的方式推动相对较新的认知遗传学领域的发展。我们研究了 ADHD 持续注意力缺陷与儿茶酚胺相关基因多巴胺β羟化酶（DβH）遗传变异之间的关系。 DBH 编码将多巴胺转化为去甲肾上腺素的酶，对儿茶酚胺调节至关重要。 DBH 基因的多态性与 ADHD 有关。在 52 名 ADHD 儿童中，我们检查了 Taq I DBH 基因多态性的变异是否与持续注意力表现相关。参与者进行了持续注意力反应测试（SART）。 SART 的表现可将 ADHD 与对照儿童区分开来，而在影像学工作中，该表现与右额顶叶激活相关。发现 DBH 基因型对 SART 性能测量有显着影响。拥有两个与 ADHD 相关的风险等位基因 (A2) 拷贝的儿童，其持续注意力明显低于那些不拥有该等位基因的 ADHD 儿童或非基因型对照组。 DBH 基因可能会导致 ADHD 的易感性，部分原因是它对介导持续注意力的大脑机制的发育有不同的影响。
Here we describe the application of cognitive genetics to the study of attention deficit hyperactivity disorder (ADHD). Cognitive genetics owes much to the pioneering work of cognitive neuropsychologists such as John Marshall, whose careful observations of cognitive dissociations between brain-lesioned patients greatly advanced the theoretical understanding of normal cognitive function. These theories have in turn helped to constrain linkages between candidate genes and cognitive processes and thus help to drive the relatively new field of cognitive genetics in a hypothesis-driven fashion. We examined the relationship between sustained attention deficits in ADHD and genetic variation in a catecholamine-related gene, dopamine beta hydroxylase (D beta H). DBH encodes the enzyme that converts dopamine to noradrenaline and is crucial to catecholamine regulation. A polymorphism with the DBH gene has been associated with ADHD. In fifty-two children with ADHD, we examined whether variation in the Taq I DBH gene polymorphism was related to sustained attention performance. Participants performed the Sustained Attention to Response Test (SART). Performance on the SART discriminates ADHD from control children, and in imaging work, is associated with right frontoparietal activation. A significant effect of DBH genotype was found on SART performance measures. Children possessing two copies of the ADHD-associated risk allele (A2) had significantly poorer sustained attention than those ADHD children who did not possess this allele or a non-genotyped control group. The DBH gene may contribute to the susceptibility for ADHD, in part because of its varying effects on the development of brain mechanisms mediating sustained attention.