Li Jun, Wang Yufeng, Qian Qiujin, Wang Bing, Zhou Rulun
Peking University Institute of Mental Health, Beijing 100083, China.
Zhonghua Yi Xue Za Zhi. 2002 Sep 10;82(17):1173-6.
To stude the association of 5-HT(2A) receptor polymorphism and attention deficit hyperactivity disorder (ADHD) in children.
Blood samples were taken from 323 6 approximately 17.5-year-old children with ADHD disgnosed based on the DSM-IV criteria, 182 healthy 18 approximately 49-year-old controls, and 195 pairs of parents of affected children, all of Han nationality. DNA was extracted. PCR was performed to examine the 5-hydroxytryptamine (5-HT)(2A) receptor T102C polymorphism. Transmission disequilibrium test (TDT) was used to test the association of alleles of 5-HT(2A) T102C polymorphic sites and AFDHD.
The frequency of T102T in patients with ADHD combined subtype was lower than that in the controls (22.35 vs 33.5%, OR = 0.569, P = 0.028, 95% CI 0.344 - 0.943), and the frequency of T102C in patients with ADHD combined subtype was higher than that in the controls (64.0% vs 47.3%, OR = 1.987, P = 0.003, 95% CI 1.264 approximately 3.124). TDT showed biased transmission of the alleles of T102C polymorphism among families of girl patients with ADHD combined subtype (P = 0.031).
For the ADHD combined subtype, the T102T genotype is a protective factor and the T102C genotype is a risk factor. For the girl with ADHD combined subtype, the allele C102 is a disease-predisposing gene.
研究5-羟色胺（5-HT）2A受体基因多态性与儿童注意力缺陷多动障碍（ADHD）的关系。
采集323例年龄约17.5岁、根据《精神疾病诊断与统计手册》第四版（DSM-IV）标准诊断为ADHD的儿童、182例年龄约49岁的健康对照者以及195对ADHD患儿的父母（均为汉族）的血样。提取DNA。采用聚合酶链反应（PCR）检测5-羟色胺（5-HT）2A受体T102C基因多态性。采用传递不平衡检验（TDT）检测5-HT2A T102C多态性位点等位基因与ADHD的关联性。
ADHD合并型患儿中T102T基因型频率低于对照组（22.35% 对33.5%，比值比（OR）=0.569，P=0.028，95%可信区间（CI）0.344～0.943），ADHD合并型患儿中T102C基因型频率高于对照组（64.0% 对47.3%，OR=1.987，P=0.003，95%CI 1.264～3.124）。TDT显示，在ADHD合并型女童家系中，T102C多态性位点等位基因传递存在偏倚（P=0.031）。
对于ADHD合并型，T102T基因型是保护因素，T102C基因型是危险因素。对于ADHD合并型女童，C102等位基因是致病易感基因。
