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GIT1 基因与巴西儿童和青少年注意缺陷多动障碍的关联研究。

Association study of GIT1 gene with attention-deficit hyperactivity disorder in Brazilian children and adolescents.

机构信息

Genetics Department, Hospital de Clínicas de Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

出版信息

Genes Brain Behav. 2012 Oct;11(7):864-8. doi: 10.1111/j.1601-183X.2012.00835.x. Epub 2012 Sep 7.

Abstract

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.

摘要

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。

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