Genetics Department, Hospital de Clínicas de Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Genes Brain Behav. 2012 Oct;11(7):864-8. doi: 10.1111/j.1601-183X.2012.00835.x. Epub 2012 Sep 7.
Attention-deficit hyperactivity disorder (ADHD) is one of the most common psychiatric disorders in children with a worldwide prevalence of 5.3%. Recently, a Korean group assessed the G-protein-coupled receptor kinase-interacting protein 1 (GIT1) gene that had previously been associated with ADHD. In their work, 27 single nucleotide polymorphisms SNPs in the GIT1 gene were tested; however, only the rs550818 SNP was associated with ADHD susceptibility. Moreover, the presence of the risk-associated allele determined reduced GIT1 expression, and Git1-deficient mice exhibit ADHD-like phenotypes. The aim of this study was to determine if this association also occurs in a sample of Brazilian children with ADHD. No effect of GIT1 genotypes on ADHD susceptibility was observed in the case-control analysis. The odds ratios (ORs) were 0.75 (P = 0.184) for the CT genotype and 1.09 (P = 0.862) for the TT genotype. In addition, the adjusted OR of the CT+TT genotypes vs. the CC genotype was also estimated (P = 0.245). There were no dimensional associations between the GIT1 genotypes and both hyperactivity and /impulsivity, and only hyperactivity Swanson, Nolan and Pelham Scale-Version IV (SNAP-IV) scores (P = 0.609 and P = 0.247, respectively). The transmission/disequilibrium test indicated that there was no over-transmission of rs550818 alleles from parents to ADHD children (z = 0.305; P = 0.761). We conclude that rs550818 is not associated with ADHD in this Brazilian sample. More studies are required before concluding that this polymorphism plays a role in ADHD susceptibility.
注意缺陷多动障碍(ADHD)是儿童中最常见的精神疾病之一,全球患病率为 5.3%。最近,一个韩国研究小组评估了先前与 ADHD 相关的 G 蛋白偶联受体激酶相互作用蛋白 1(GIT1)基因。在他们的工作中,测试了 GIT1 基因中的 27 个单核苷酸多态性(SNP);然而,只有 rs550818 SNP 与 ADHD 易感性相关。此外,风险相关等位基因的存在决定了 GIT1 表达的减少,而 Git1 缺陷型小鼠表现出 ADHD 样表型。本研究旨在确定这种关联是否也发生在巴西 ADHD 儿童的样本中。在病例对照分析中,GIT1 基因型对 ADHD 易感性没有影响。CT 基因型的比值比(OR)为 0.75(P = 0.184),TT 基因型的 OR 为 1.09(P = 0.862)。此外,还估计了 CT+TT 基因型与 CC 基因型的调整 OR(P = 0.245)。GIT1 基因型与多动和/冲动之间没有维度关联,只有 Swanson、Nolan 和 Pelham 量表第四版(SNAP-IV)的多动得分(P = 0.609 和 P = 0.247)。传递/不平衡检验表明,从父母到 ADHD 儿童的 rs550818 等位基因没有过度传递(z = 0.305;P = 0.761)。我们得出结论,在这个巴西样本中,rs550818 与 ADHD 无关。在得出该多态性在 ADHD 易感性中起作用之前,还需要更多的研究。