Li Jun, Kang Chuanyuan, Zhang Haobo, Wang Yufeng, Zhou Rulun, Wang Bing, Guan Lili, Yang Li, Faraone Stephen V
Institute of Mental Health, Peking University (Peking University sixth hospital), China.
Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):430-3. doi: 10.1002/ajmg.b.30421.
ADHD is generally deemed to be a highly heritable disorder with mean heritability of 0.75. The enzyme monoamine oxidase (MAO), which has both A and B types, has long been considered a candidate pathological substrate for ADHD, and more recently, the genes for both MAO enzymes have been examined as mediators of the illness. Previous studies indicated that 30-50% of children with ADHD will experience symptoms that persist into adolescence and will have more significant impairment in social and neuropsychological functioning compared to those whose symptoms have remitted. Genes may also influence these characteristics of the disorder, and in this context MAO genes may also be candidates for moderating the presentation of ADHD. The current study examined the association between adolescent outcome of ADHD and MAO gene polymorphisms, including the 941T > G polymorphism in exon 8 (rs1799835) and 1460C > T polymorphism in exon 14 (rs1137070) of the MAOA gene, and the A > G polymorphism in intron13 (rs1799836), C > T polymorphism in the 3'UTR (rs1040399), and 2327T > C polymorphism in exon15 of the MAOB gene. Significant associations were observed between the MAOA gene polymorphisms and ADHD remission. Due to the small sample size and the possibility of phenotypic and etiologic heterogeneity of ADHD outcomes across ethnic or geographic groups, these results must be replicated before they can be generalized to other populations.
注意力缺陷多动障碍（ADHD）通常被认为是一种高度可遗传的疾病，平均遗传率为0.75。单胺氧化酶（MAO）有A、B两种类型，长期以来一直被视为ADHD的候选病理底物，最近，这两种MAO酶的基因也被作为该疾病的介导因素进行了研究。先前的研究表明，30%-50%的ADHD儿童的症状会持续到青春期，与症状已缓解的儿童相比，他们在社交和神经心理功能方面会有更显著的损害。基因也可能影响该疾病的这些特征，在这种情况下，MAO基因也可能是调节ADHD表现的候选基因。本研究检测了ADHD青少年转归与MAO基因多态性之间的关联，包括MAOA基因第8外显子的941T>G多态性（rs1799835）、第14外显子的1460C>T多态性（rs1137070），以及MAOB基因第13内含子的A>G多态性（rs1799836）、3'非翻译区的C>T多态性（rs1040399）和第15外显子的2327T>C多态性。观察到MAOA基因多态性与ADHD缓解之间存在显著关联。由于样本量小，且不同种族或地理群体的ADHD转归可能存在表型和病因异质性，这些结果在推广到其他人群之前必须进行重复验证。
