Department of Pediatrics, First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, PR China.
Eur J Paediatr Neurol. 2011 Jan;15(1):48-52. doi: 10.1016/j.ejpn.2010.06.001. Epub 2010 Jul 4.
Attention-Deficit Hyperactivity Disorder (ADHD) is the most common behavioral disorder in childhood. Genetic associations have been reported between ADHD and polymorphic variants within or near dopamine pathway genes. Synaptosomal-associated protein, 25 kDa (SNAP-25), a presynaptic plasma membrane protein with an integral role in synaptic transmission, has shown association with ADHD in several datasets. We characterized two single-nucleotide polymorphisms (rs362549, rs363006) and one microsatellite [5'-UTR (TAAA)(n)] of SNAP-25. The association of these variants with ADHD was assessed in 102 trios collected from 90 male and 12 female probands. Transmission disequilibrium test (TDT) analysis showed that none of the polymorphic alleles were preferentially transmitted to the probands. Quantitative analysis was also conducted to assess the relationship between these marker alleles and the severity of ADHD symptoms. Analysis of the DSM-IV subtypes indicated that a significant association was identified between SNP rs362549 and ADHD subtypes (P = 0.0047). This is the first report of an association between SNAP-25 and ADHD in Chinese subjects of Han descent. We still support the premise that SNAP-25 is a genetic susceptibility factor for ADHD.
注意缺陷多动障碍（ADHD）是儿童期最常见的行为障碍。已有研究报道，ADHD 与多巴胺通路基因内或附近的多态性变异有关。突触相关蛋白 25kDa（SNAP-25）是一种突触前质膜蛋白，在突触传递中具有重要作用，在多个数据集显示与 ADHD 相关。我们对 SNAP-25 的两个单核苷酸多态性（rs362549、rs363006）和一个微卫星[5'-UTR（TAAA）（n）]进行了特征描述。从 90 名男性和 12 名女性先证者中收集的 102 个三核苷酸对，评估了这些变体与 ADHD 的关联。传递不平衡测试（TDT）分析表明，没有一个多态等位基因优先传递给先证者。还进行了定量分析，以评估这些标记等位基因与 ADHD 症状严重程度之间的关系。DSM-IV 亚型分析表明，SNP rs362549 与 ADHD 亚型之间存在显著关联（P = 0.0047）。这是首次在中国汉族 ADHD 患者中报道 SNAP-25 与 ADHD 之间的关联。我们仍然支持 SNAP-25 是 ADHD 的遗传易感因素的前提。
