Gálvez Jubby M, Forero Diego A, Fonseca Dora J, Mateus Heidi E, Talero-Gutierrez Claudia, Velez-van-Meerbeke Alberto
Neuroscience Department and Research Group (NeURos), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 N63C-69, Bogotá, Colombia.
Atten Defic Hyperact Disord. 2014 Mar;6(1):19-23. doi: 10.1007/s12402-013-0123-9. Epub 2013 Dec 23.
Attention deficit hyperactivity disorder (ADHD) is one of the most highly heritable behavioral disorders in childhood, with heritability estimates between 60 and 90 %. Family, twin and adoption studies have indicated a strong genetic component in the susceptibility to ADHD. The synaptosomal-associated protein of molecular weight 25 kDa (SNAP25) is a plasma membrane protein known to be involved in synaptic and neural plasticity. Animal model studies have shown that SNAP25 gene is responsible for hyperkinetic behavior in the coloboma mouse. In recent studies, several authors reported an association between SNAP25 and ADHD. In this study, we used a case-control approach to analyze the possible association of two polymorphisms of SNAP25 for possible association with ADHD in a sample of 73 cases and 152 controls in a Colombian children population. Polymorphisms are located in 3' untranslated region of SNAP25, positions T1065G and T1069C. We found a significant association with the GT haplotype (rs3746554|rs1051312) of SNAP25 (p = 0.001). Evidence of association was also found for the G/G genotype of rs3746554 (p = 0.002) and C/C genotype of rs1051312 (p = 0.009). This is the first study in a Latin American population. Similar to other studies, we found evidence of the association of SNAP25 and ADHD.
注意缺陷多动障碍(ADHD)是儿童期遗传性最高的行为障碍之一,遗传度估计在60%至90%之间。家族、双胞胎和收养研究表明,ADHD易感性中存在很强的遗传成分。分子量为25 kDa的突触体相关蛋白(SNAP25)是一种已知参与突触和神经可塑性的质膜蛋白。动物模型研究表明,SNAP25基因与无虹膜小鼠的多动行为有关。在最近的研究中,几位作者报道了SNAP25与ADHD之间的关联。在本研究中,我们采用病例对照方法,分析了SNAP25的两个多态性与哥伦比亚儿童人群中73例病例和152例对照样本中ADHD的可能关联。多态性位于SNAP25的3'非翻译区,位置为T1065G和T1069C。我们发现SNAP25的GT单倍型(rs3746554|rs1051312)存在显著关联(p = 0.001)。rs3746554的G/G基因型(p = 0.002)和rs1051312的C/C基因型(p = 0.009)也发现了关联证据。这是拉丁美洲人群中的第一项研究。与其他研究相似,我们发现了SNAP25与ADHD关联的证据。