Jiang S, Xin R, Wu X, Lin S, Qian Y, Ren D, Tang G, Wang D
Shanghai Mental Health Center, Peoples Republic of China.
Am J Med Genet. 2000 Jun 12;96(3):289-92. doi: 10.1002/1096-8628(20000612)96:3<289::aid-ajmg11>3.0.co;2-z.
Attention deficit hyperactivity disorder (ADHD) is a prevalent disorder in children. The etiology of this disease is not clear. Genetics studies have suggested the involvement of the dopamine DRD-4 receptor gene and dopamine transporter gene (DAT1). Clinical studies have shown that monoamine oxidase-B (MAO-B) inhibitors are effective in the treatment of ADHD. These findings suggest that monoamine oxidase (MAO) genes might be involved in the origin of ADHD. In the present work, the DXS7 locus of chromosome X, which is closely linked to MAO genes, was selected as a marker to study the possible association between ADHD and MAO genes in the Chinese population. Haplotype-based haplotype relative risk (HHRR) and the transmission disequilibrium test (TDT) methods were employed to analyze the association and the linkage disequilibrium, respectively. Significant association (X(2) = 15.86; 1 df; P < 0.001) and linkage (X(2) = 14.88; 1 df; P < 0.001) were detected between the 157-bp allele of the DXS7 locus and the DSM-III-R-diagnosed ADHD (N = 72) in trios composed of father, mother, and affected offspring. The data suggested that ADHD was associated and in linkage with DXS7 locus.
注意缺陷多动障碍（ADHD）是一种常见的儿童疾病。该疾病的病因尚不清楚。遗传学研究表明多巴胺DRD - 4受体基因和多巴胺转运体基因（DAT1）与之有关。临床研究表明单胺氧化酶 - B（MAO - B）抑制剂对ADHD治疗有效。这些发现提示单胺氧化酶（MAO）基因可能参与了ADHD的发病机制。在本研究中，选择与MAO基因紧密连锁的X染色体上的DXS7位点作为标记，研究中国人群中ADHD与MAO基因之间可能存在的关联。基于单倍型的单倍型相对风险（HHRR）和传递不平衡检验（TDT）方法分别用于分析关联和连锁不平衡。在由父亲、母亲和患病后代组成的三联体中（N = 72），检测到DXS7位点的157 - bp等位基因与DSM - III - R诊断的ADHD之间存在显著关联（X(2) = 15.86；1自由度；P < 0.001）和连锁（X(2) = 14.88；1自由度；P < 0.001）。数据表明ADHD与DXS7位点有关联且存在连锁。
