Departamento de Genética, Instituto de Biociências, UFRGS, Caixa Postal: 15053, Porto Alegre, RS CEP 91501-970, Brazil.
Eur Arch Psychiatry Clin Neurosci. 2013 Apr;263(3):181-8. doi: 10.1007/s00406-012-0321-z. Epub 2012 May 15.
Attention-deficit/hyperactivity disorder (ADHD) affects approximately 5 % of school-aged children and 2.5 % of adults. Genetic studies in ADHD have pointed to genes in different neurobiological systems, with relatively small individual effects. The mineralocorticoid receptor is the main receptor involved in the initial triggering of stress response. Therefore, its encoding gene (NR3C2) is a candidate for psychiatric disorder studies, including ADHD, and behavioral phenotypes. There is evidence that the Val allele of the MRI180V polymorphism (rs5522) increases the risk of depression, attention and cognitive deficits. We investigated the possible role of the mineralocorticoid receptor gene in the symptom dimensions and susceptibility to persistent ADHD. We compared genotype and allele frequencies in 478 adult patients with ADHD and 597 controls and symptom dimensions in 449 patients and 132 controls. Diagnoses were based on the DSM-IV criteria. ADHD symptom dimensions were investigated with SNAP-IV for ADHD severity and Barkley scales for severity and impairment. Carriers of the Val allele presented higher inattention, hyperactivity/impulsivity and impairment scores, while genotype and allele frequencies did not differ between patients and controls. These results are consistent with a possible link between genetic variations in the HPA axis and inattention and hyperactivity measures.
注意缺陷多动障碍(ADHD)影响约 5%的学龄儿童和 2.5%的成年人。ADHD 的遗传研究指出了不同神经生物学系统中的基因,其个体效应相对较小。盐皮质激素受体是参与应激反应初始触发的主要受体。因此,其编码基因(NR3C2)是包括 ADHD 和行为表型在内的精神障碍研究的候选基因。有证据表明,MRI180V 多态性(rs5522)的 Val 等位基因增加了抑郁、注意力和认知缺陷的风险。我们研究了矿物质皮质激素受体基因在持续性 ADHD 的症状维度和易感性中的可能作用。我们比较了 478 名成年 ADHD 患者和 597 名对照者的基因型和等位基因频率,以及 449 名患者和 132 名对照者的症状维度。诊断基于 DSM-IV 标准。使用 SNAP-IV 对 ADHD 严重程度和 Barkley 量表对严重程度和损害进行 ADHD 症状维度研究。Val 等位基因携带者的注意力不集中、多动/冲动和损害评分较高,而患者和对照组之间的基因型和等位基因频率没有差异。这些结果与 HPA 轴和注意力不集中与多动测量值的遗传变异之间可能存在联系一致。