Department of Child and Adolescent Psychiatry, Seoul National University College of Medicine, Seoul, Republic of Korea.
Psychiatry Investig. 2012 Sep;9(3):269-77. doi: 10.4306/pi.2012.9.3.269. Epub 2012 Sep 6.
The purpose of this study was to investigate the association between the T102C polymorphism in the serotonin 2A receptor gene and attention-deficit/hyperactivity disorder (ADHD) in Korean patients.
A total of 189 Korean children with ADHD as well as both parents of the ADHD children and 150 normal children participated in this study. DNA was extracted from blood samples from all of the subjects, and genotyping was conducted. Based on the allele and genotype information obtained, case-control analyses were performed to compare the ADHD and normal children, and Transmission disequilibrium tests (TDTs) were used for family-based association testing (number of trios=113). Finally, according to the significant finding which was showed in the case-control analyses, the results of behavioral characterastics and neuropsychological test were compared between ADHD children with and without the C allele.
In the case-control analyses, statistically significant differences were detected in the frequencies of genotypes containing the C allele (χ(2)=4.73, p=0.030). In the family-based association study, TDTs failed to detect linkage disequilibrium of the T102C polymorphism associated with ADHD children. In the ADHD children, both the mean reaction time and the standard deviation of the reaction time in the auditory continuous performance test were longer in the group with the C allele compared to the group without the C allele.
The results of this study suggest that there is a significant genetic association between the T102C polymorphism in the serotonin 2A receptor gene and ADHD in Korean children.
本研究旨在探讨血清素 2A 受体基因 T102C 多态性与韩国注意缺陷多动障碍（ADHD）之间的关联。
共有 189 名韩国 ADHD 患儿及其父母，以及 150 名正常儿童参加了本研究。从所有受试者的血样中提取 DNA，并进行基因分型。根据获得的等位基因和基因型信息，进行病例对照分析，比较 ADHD 患儿和正常儿童，并使用传递不平衡检验（TDTs）进行基于家系的关联检验（家系数=113）。最后，根据病例对照分析中显示的显著发现，比较了携带 C 等位基因和不携带 C 等位基因的 ADHD 患儿的行为特征和神经心理学测试结果。
在病例对照分析中，携带 C 等位基因的基因型频率存在统计学差异（χ(2)=4.73，p=0.030）。在家系关联研究中，TDTs 未能检测到与 ADHD 儿童相关的 T102C 多态性的连锁不平衡。在 ADHD 患儿中，携带 C 等位基因的患儿的听觉连续表现测试的平均反应时间和反应时间标准差均长于不携带 C 等位基因的患儿。
本研究结果表明，血清素 2A 受体基因 T102C 多态性与韩国儿童 ADHD 之间存在显著的遗传关联。
