Environmental Health Center, Dankook Medical Hospital, Cheonan, 31116, Korea.
Department of Biological Sciences, College of Natural Science, Dankook University, Cheonan, 31116, Korea.
Medicina (Kaunas). 2018 May 18;54(3):32. doi: 10.3390/medicina54030032.
: Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. The genetic cause of ADHD is still unclear, but the dopaminergic, serotonergic, and noradrenergic pathways have shown a strong association. In particular, monoamine oxidase A (MAOA) plays an important role in the catabolism of these neurotransmitters, suggesting that the gene is associated with ADHD. Therefore, we evaluated the relationship between the gene polymorphisms (uVNTR and rs6323) and ADHD. : We collected a total of 472 Korean children (150 ADHD cases and 322 controls) using the Korean version of the Dupaul Attention Deficit Hyperactivity Disorder Rating Scales (K-ARS). Genotyping was performed by PCR and PCR-RFLP. The Behavior Assessment System for Children Second Edition (BASC-2) was used to evaluate the problem behaviors within ADHD children. : We observed significant associations between the rs6323 and ADHD in girls ( < 0.05) and the TT genotype was observed as a protective factor against ADHD in the recessive model (OR 0.31, 95% CI 0.100⁻0.950, = 0.022). The 3.5R-G haplotype showed a significant association in ADHD boys ( = 0.043). The analysis of subtype also revealed that the 4.5R allele of uVNTR was a risk factor for the development of ADHD in the combined symptom among girls (OR 1.87, 95% CI 1.014⁻3.453, = 0.031). In the BASC-2 analysis, the uVNTR polymorphism was associated with activities of daily living in ADHD boys ( = 0.017). : These results suggest the importance of the gene polymorphisms in the development of ADHD in Korean children. A larger sample set and functional studies are required to further elucidate of our findings.
注意缺陷多动障碍（ADHD）是一种常见的神经发育障碍。ADHD 的遗传原因尚不清楚，但多巴胺能、血清素能和去甲肾上腺素能途径显示出很强的关联性。特别是单胺氧化酶 A（MAOA）在这些神经递质的分解代谢中起着重要作用，表明该基因与 ADHD 有关。因此，我们评估了 基因多态性（uVNTR 和 rs6323）与 ADHD 之间的关系。
我们使用韩国版 Dupaul 注意力缺陷多动障碍评定量表（K-ARS）共收集了 472 名韩国儿童（150 名 ADHD 病例和 322 名对照）。通过 PCR 和 PCR-RFLP 进行基因分型。使用儿童行为评估系统第二版（BASC-2）评估 ADHD 儿童的问题行为。
我们观察到 rs6323 与女孩中的 ADHD 之间存在显著关联（<0.05），并且在隐性模型中 TT 基因型被观察为 ADHD 的保护因素（OR 0.31，95%CI 0.100⁻0.950，=0.022）。3.5R-G 单倍型在 ADHD 男孩中表现出显著关联（=0.043）。亚型分析还表明，uVNTR 的 4.5R 等位基因是女孩中综合症状发展为 ADHD 的危险因素（OR 1.87，95%CI 1.014⁻3.453，=0.031）。在 BASC-2 分析中，uVNTR 多态性与 ADHD 男孩的日常生活活动有关（=0.017）。
这些结果表明， 基因多态性在韩国儿童 ADHD 的发展中具有重要意义。需要更大的样本量和功能研究来进一步阐明我们的发现。
