5-羟色胺载体蛋白基因和5-羟色胺2A受体基因对注意缺陷多动障碍患儿智商的交互作用  

Gene-Gene Interaction between Serotonin Transporter Gene and Serotonin 2A Receptor Gene on Intelligence of Children with Attention Deficit Hyperactivity Disorder

作　　者：钱秋谨[1] 王玉凤[1] 李君[1] 杨莉[1] 陈芸[1] 吉宁[1] 刘璐[1] 

机构地区：[1]北京大学精神卫生研究所儿童室,卫生部精神卫生学重点实验室,北京100191

出　　处：《实用儿科临床杂志》2010年第2期133-136,共4页Journal of Applied Clinical Pediatrics

基　　金：卫生行业科研专项经费项目(200802073);国家自然科学基金(30770774);"十一五"国家科技支撑计划(2007BAI17B03)

摘　　要：目的探讨5-羟色胺(5-HT)系统中5-HT载体蛋白(5-HTT)基因和5-HT2A受体(5-HTR2A)基因对注意缺陷多动障碍(ADHD)患儿智商的交互作用。方法对233例中国汉族ADHD患儿进行韦氏智力测查,并采用限制性片段长度多态性(RFLP)的方法检测5-HTT基因第2内含子(Stin2)17bp的可变数目顺向重复(VNTR)多态性(Stin2.VNTR)和5-HTR2A启动子区-1438A/G多态性。结果5-HTT基因和5-HTR2A基因交互作用对全量表智商(FSIQ)和操作智商(PIQ)有明显的预测作用(F=7.011,P=0.009;F=10.246,P=0.002)。在所有基因型组合中,10R12R-GG基因型可提示最高智商(FSIQ:113.0±4.5,95%CI:104.2～121.8;PIQ:111.2±4.7,95%CI:101.9～120.6),10R12R-GA/AA基因型提示最低智商(FSIQ:91.9±2.9,95%CI:86.3～97.5;PIQ:89.2±3.0,95%CI:83.2～95.2)。5-HTR2A的-1438A/G与患儿的FSIQ、PIQ和言语智商(VIQ)存在关联(F=20.941、18.319、15.365,Pa=0.000);5-HTT的Stin2.VNTR与智商无关联(F=0.001,P=0.978;F=0.561,P=0.455;F=0.586,P=0.445)。结论5-HTT基因Stin2.VNTR多态性和5-HTR2A的-1438A/G多态性对中国汉族ADHD患儿的智商(FSIQ和PIQ)存在基因交互作用。Objective To investigate the gene-gene interaction between serotonin transporter （5-HTT） gene and serotonin 2A receptor （5-HTR2A） gene in the role for intelligence of children with attention deficit hyperactivity disorder（ADHD）.Methods A total of 233 ADHD children of Chinese Han descent were included,and the complete intelligence quotient（IQ） evaluation were detected,and two polymorphisms of serotonin transporter intron 2 variable number tandem repeat（stin2.VNTR） and -1438A/G polymorphism in the 5-HTR2A gene were obtained by the method of restriction fragment length polymorphisms（RFLP）.Results The 5-HTT gene and 5-HTR2A interaction significantly associated with the full scale （FSIQ） and performance（PIQ） IQ scores（F=7.011,P=0.009;F=10.246,P=0.002）.Among all combined genotypes,the10R12R-GG genotype predicted the highest intelligence（average 113.0±4.5,95%CI：104.2-121.8 for FSIQ;average 111.2±4.7,95%CI：101.9-120.6 for PIQ）,and 10R12R-GA/AA predicted the lowest intelligence （average 91.9±2.9,95%CI：86.3-97.5 for FSIQ;average 89.2±3.0,95%CI：83.2-95.2 for PIQ）.The 5-HTR2A -1438A/G significantly associated with the FSIQ,PIQ and verbal IQ（VIQ）（F=20.941,18.319,15.365,Pa=0.000）;HTT Stin2.VNTR independently had no effect on any of the IQ scores（F=0.001,P=0.978;F=0.561,P=0.455;F=0.586,P=0.445）.Conclusion Gene-gene interaction between 5-HTT gene and 5-HTR2A gene on the intelligence of ADHD children in China is intriguing.

关 键 词：注意缺陷多动障碍 基因 智力 5-羟色胺 交互作用 

分 类 号：R749.94[医药卫生—神经病学与精神病学]