儿童注意缺陷多动障碍COMT基因多态性的对照研究

Controlled study of polymorphism of catechol-O-methyltransferase gene on children with attention deficit hyperactivity disorder

【目的】分析儿童注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)与儿茶酚-O-甲基转移酶(catechol-O-methyltransferase,COMT)基因第158位密码子G→A点突变所引起的缬氨酸→甲硫氨酸(Val158Met)的错义突变多态性的关系。【方法】采用实时荧光定量PCR技术,分析了110例ADHD儿童与90例正常儿童COMT基因Val158Met多态性的位点频率。【结果】病例组A等位基因的频率为22.73%,而对照组为23.33%,两组差异无统计学意义(χ2=0.021,P>0.05)。COMT各基因型的分布频率在病例组和对照组之间差异也无统计学意义(χ2=3.668,P>0.05)。【结论】COMT基因Val158Met多态性可能与儿童ADHD无关联。

【Objective】 To analyze the correlation between attention deficit hyperactivity disorder（ADHD） in children and Val158Met polymorphism of catechol-O-methyltransferase（COMT） gene caused by the missense mutation of G158A. 【Methods】 The Val158Met polymorphism of COMT gene was tested in 110 children with ADHD and 90 non-ADHD by using quantitative PCR technique. 【Results】 The frequencies of A allele were 22.73% and 23.33% in case and controlled group respectively,which showed no significant difference between the two groups（χ2=0.021,P0.05）.There was also no significant difference in the distribution of all genotypes of COMT gene between the two groups（χ2=3.668,P0.05）. 【Conclusions】 It is suggested that there is no association between ADHD in children and Val158Met polymorphism of COMT gene in this study.