5-HT_(2A)受体T102C基因多态性与儿童注意缺陷多动障碍的相关性

Association of 5-HT_(2A) receptor polymorphism and attention deficit hyperactivity disorder in children

目的 探讨儿童注意缺陷多动障碍 (ADHD)及其表型与 5 HT2A受体基因T10 2C多态性之间的关联。方法 对 32 3例中国汉族ADHD患儿、195个核心家系及 182名正常对照 ,就 5 HT2A受体基因T10 2C多态性进行检测和关联分析。结果 (1)ADHD混合型患儿T10 2T基因型明显少于正常对照 (2 2 3%vs 33 5 % ,OR =0 5 6 9,P =0 0 2 8,95 %CI 0 344～ 0 94 3) ,而T10 2C基因型明显多于正常对照 (6 4 0 %vs 4 7 3% ,OR =1 987,P =0 0 0 3,95 %CI 1 2 6 4～ 3 12 4 ) ,(2 )ADHD混合型女孩组T10 2C等位基因传递不平衡。结论 (1)T10 2T基因型是ADHD混合型的保护因子 ,T10 2C基因型是ADHD混合型的风险因子 ,(2 ) 5 HT2A受体基因T10 2C多态性位点的 10 2C等位基因可能是女孩ADHD混合型发病的易感基因。

Objective To stude the association of 5 HT 2A receptor polymorphism and attention deficit hyperactivity disorder (ADHD) in children. Methods Blood samples were taken from 323 6～17.5 year old children with ADHD disgnosed based on the DSM Ⅳ criteria, 182 healthy 18～49 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. Results 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 1.264～3.124). TDT showed biased transmission of the alleles of T102C polymorphism among families of girl patients with ADHD combined subtype ( P =0.031). Conclusion 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 perdisposing gene.