Drtilkova Ivana, Sery Omar, Theiner Pavel, Uhrova Alena, Zackova Marketa, Balastikova Blanka, Znojil Vladimir
Department of Psychiatry, Faculty Hospital and Masaryk University Brno, Czech Republic.
Neuro Endocrinol Lett. 2008 Jun;29(3):320-7.
The objective was to make a contribution to deepening the knowledge of the etiopathogenesis of ADHD.
In an association study design, an analysis of polymorphisms of selected genes was conducted in 119 hyperkinetic boys and a control group of boys, aged 7-13. Furthermore several psychologically determined subgroups were identified. A connection between psychological functions (endophenotypes) and genes were looked for.
There was a statistically significant difference found in allelic and genotype frequencies of the TaqI A polymorphism of the DRD2 gene. The frequency of the allele A1 in hyperkinetic boys and the control subjects was 0.26 and 0.15, respectively (p<0.003). A statistically significant occurrence of atypical genotypes (8/10, 7/10 and 10/11) of the DAT1 gene was also found in hyperkinetic boys and a connection between the M235 polymorphism of the angiotensinogene gene and the positive family history of psychiatric illness was found in probands (p=0.031). Significant correlations between the results of some neuropsychological tests and genes for neuro-/immunomodulators (IL-6, TNF-alpha) and the gene for the brain-derived neurotrophic factor (BDNF) were found.
The study showed a statistically significant prevalence of A1 allele of the DRD gene in the hyperkinetic group. We also found a significantly higher incidence of atypical DAT genotypes in the hyperkinetic group. Furthermore we found significant connections with particular gene polymorphisms which may hypothetically represent a neurodevelopmental risk factor in the etiopathogenesis of the disorder (IL-2, IL-6, TNF-alpha, BDNF). We further found a connection of the M235 polymorphism of the AGT (angiotensinogene) gene to positive family history of psychiatric illness (p=0.031). As for cognitive characteristics, we identified three subtypes with different cognitive performance profiles. This finding shows interindividual variability of cognitive style in the group of hyperkinetic boys.
旨在为加深对注意力缺陷多动障碍（ADHD）病因发病机制的认识做出贡献。
在一项关联研究设计中，对119名多动男孩和一组7至13岁的对照男孩进行了所选基因多态性分析。此外，还确定了几个心理决定的亚组。研究心理功能（内表型）与基因之间的联系。
在DRD2基因的TaqI A多态性的等位基因和基因型频率上发现了统计学上的显著差异。多动男孩和对照受试者中A1等位基因的频率分别为0.26和0.15（p<0.003）。在多动男孩中还发现DAT1基因非典型基因型（8/10、7/10和10/11）有统计学意义的出现，并且在先证者中发现血管紧张素原基因的M235多态性与精神疾病阳性家族史之间存在联系（p = 0.031）。发现一些神经心理学测试结果与神经/免疫调节剂（IL-6、TNF-α）基因以及脑源性神经营养因子（BDNF）基因之间存在显著相关性。
该研究表明多动组中DRD基因A1等位基因的患病率具有统计学意义。我们还发现多动组中非典型DAT基因型的发生率明显更高。此外，我们发现了与特定基因多态性的显著联系，这些多态性可能在该疾病的病因发病机制中代表一种神经发育风险因素（IL-2、IL-6、TNF-α、BDNF）。我们进一步发现AGT（血管紧张素原）基因的M235多态性与精神疾病阳性家族史之间存在联系（p = 0.031）。至于认知特征，我们确定了三种具有不同认知表现特征的亚型。这一发现表明多动男孩群体中认知风格存在个体间差异。
