V originále
OBJECTIVES: The objective was to make a contribution to deepening the knowledge of the etiopathogenesis of ADHD. DESIGN: 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 to 13. Furthermore several psychologically determined subgroups were identified. A connection between psychological functions (endophenotypes) and genes were looked for. RESULTS: 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 (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 polymorphi sm 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. CONCLUSION: 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.
Česky
V rámci asociační studie byla provedena analýza polymorfizmů kandidátních genů u 119 chlapců s diagnózou hyperkinetické poruchy ve věku 7-13 let a kontrolní skupiny 153 chlapců. Statisticky významný rozdíl v alelických a genotypových frekvencích byl objeven u TaqI A polymorfizmu genu pro DRD2. Frekvence alely A1 byla u hyperkinetických dětí 0,26, u kontrolního souboru 0,15 (p<0,003). U chlapců s hyperkinetickou poruchou byl dále zjištěn statisticky významný výskyt atypických genotypů (8/10, 7/10 a 10/11) polymorfizmu genu pro DAT1a byla nalezena souvislost s polymorfizmem M235 genu pro AGT (angiotensinogen) a výskytem psychiatrické heredity v rodinách probandů (p=0,031). Zjistili jsme signifikantní korelaci mezi výsledky v některých neuropsychologických testech a polymorfizmy genů pro cytokiny (IL-6 a TNF alfa) a polymorfizmem genu pro neuronální růstový faktor BDNF.