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土耳其样本中 ADHD 的存在与某些候选基因多态性之间的关系。

The relationship between the presence of ADHD and certain candidate gene polymorphisms in a Turkish sample.

机构信息

Department of Psychiatry, Ondokuz Mayis University, School of Medicine, Samsun, Turkey.

出版信息

Gene. 2013 Oct 10;528(2):320-7. doi: 10.1016/j.gene.2013.07.004. Epub 2013 Jul 18.

Abstract

Due to the high heritability of attention-deficit hyperactivity disorder (ADHD), parents of children with ADHD appear to represent a good sample group for investigating the genetics of the disorder. The aim of this study was to investigate the association between ADHD and six polymorphisms in five candidate genes [5-HT2A (rs6311), NET1 (rs2242447), COMT (rs4818), NTF3 (rs6332), SNAP-25 (rs3746544) and (rs1051312)]. We included 228 parents of children diagnosed with ADHD and 109 healthy parents as the control group. The polymorphisms were genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays and analyzed using the chi-square test and the multinomial logit model. SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-HT2A (rs6311) and NET1 (rs2242447) polymorphisms were associated with ADHD. On the other hand, there was no significant association between the SNAP-25 (rs1051312), NTF3 (rs6332), or COMT (rs4818) gene polymorphisms and ADHD. In addition, we found that even if variation in the SNAP-25 gene alone does not affect the phenotype, it may nevertheless lead to the emergence of a clinical ADHD picture in the presence of other genetic factors. Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs3746544) is a risk factor for ADHD. Problems associated with the noradrenergic and serotonergic systems and SNAP-25 may play a role, both alone and in interaction with one another, in the pathophysiological mechanisms of ADHD.

摘要

由于注意缺陷多动障碍 (ADHD) 的遗传性很高,因此 ADHD 患儿的父母似乎是研究该疾病遗传学的一个很好的样本群体。本研究旨在探讨 ADHD 与五个候选基因中的六个多态性之间的关联 [5-HT2A(rs6311),NET1(rs2242447),COMT(rs4818),NTF3(rs6332),SNAP-25(rs3746544)和(rs1051312)]。我们纳入了 228 名被诊断为 ADHD 的儿童的父母和 109 名健康父母作为对照组。使用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)检测方法对多态性进行基因分型,并使用卡方检验和多项逻辑回归模型进行分析。SNAP-25(rs3746544)多态性与 ADHD 的负荷有关,而 5-HT2A(rs6311)和 NET1(rs2242447)多态性与 ADHD 有关。另一方面,SNAP-25(rs1051312)、NTF3(rs6332)或 COMT(rs4818)基因多态性与 ADHD 之间没有显著关联。此外,我们发现即使 SNAP-25 基因的变异本身不会影响表型,但它可能会导致在存在其他遗传因素的情况下出现临床 ADHD 表现。我们的研究结果表明,NET1(rs2242447)和 SNAP-25(rs3746544)的组合是 ADHD 的一个危险因素。去甲肾上腺素能和血清素能系统以及 SNAP-25 相关的问题可能单独或相互作用,在 ADHD 的病理生理机制中发挥作用。

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