注意缺陷多动障碍患儿COMT基因rs6267多态性分析

Catechol-O-methyltransferase gene rs6267 polymorphism in children with attention deficit hyperactivity disorder

摘要:

目的：分析儿茶酚胺氧位甲基转移酶（COMT）基因 rs6267 多态性位点与注意缺陷多动障碍（ADHD）的关联，寻找ADHD的易感基因。方法：采用聚合酶链反应-限制性片段长度多态性技术分析 114 例ADHD 儿童与 76 例正常对照组的 COMT 基因 rs6267 多态性位点频率，并用儿童行为量表（CBCL）评定儿童行为问题。结果：rs6267 多态性各基因型及等位基因在 ADHD 组和正常对照组之间的分布差异无统计学意义（P＞0.05）。基因型为G/G的ADHD患儿的思维问题和违纪问题（分别为1.7±1.9，4.5±3.7)明显多于基因型为G/T的患儿（分别为1.0±0.9，2.2±1.4）（P＜0.05）。结论：COMT 基因 rs6267 多态性可能不是 ADHD 的易感因素；rs6267 多态性可能与 ADHD 的某些临床特征有关。

Abstract:

OBJECTIVE: To study the relationship between rs6267 polymorphism of catechol-O-methyltransferase (COMT) gene and attention deficit hyperactivity disorder (ADHD). METHODS: One hundred and fourteen children with ADHD and 76 normal volunteers were enrolled. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques were used for detecting COMT rs6267 polymorphism. The behavioral problems were assessed by Child Behavior Checklist (CBCL). RESULTS: There were no significant differences in the COMT genotype distribution and allele frequencies between the ADHD and normal control groups. The frequencies of thinking problems (1.7±1.9 vs 1.0±0.9) and disciplinary problems (4.5±3.7 vs 2.2±1.4) in ADHD children carrying genotype G/G were significantly higher than those in children carrying G/T (P＜0.05). CONCLUSIONS: COMT rs6267 polymorphism may not contribute to susceptibility to ADHD. However, there might be an association between rs6267 polymorphism and some clinical characters of ADHD.