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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 interaction between 5-HT and 5-HTR2A gene in children with attention deficit hyperactivity disorder (ADHD) in serotonin (5-HT) system . Methods The Wechsler intelligence was measured in 233 Chinese children with ADHD. The variable number of 17bp of Stin2 in 5-HTT gene was determined by restriction fragment length polymorphism (RFLP) (VNTR) polymorphism (Stin2.VNTR) and the 5-HTR2A promoter region -1438A / G polymorphism. Results The interaction between 5-HTT gene and 5-HTR2A gene was significantly predictive of FSIQ and PIQ (F = 7.011, P = 0.009; F = 10.246, P = 0.002). In all genotype combinations, the 10R12R-GG genotype suggested the highest IQ (FSIQ: 113.0 ± 4.5, 95% CI: 104.2-121.8; PIQ: 111.2 ± 4.7, 95% CI: 101.9-120.6) The AA genotype suggested the lowest IQ (FSIQ: 91.9 ± 2.9, 95% CI: 86.3-97.5; PIQ: 89.2 ± 3.0, 95% CI: 83.2-95.2). There was a correlation between-1438A / G of 5-HTR2A and FSIQ, PIQ and VIQ in children (F = 20.941,18.319,15.365, Pa = 0.000); Stin2.VNTR of 5-HTT was not associated with IQ = 0.001, P = 0.978; F = 0.561, P = 0.455; F = 0.586, P = 0.445). Conclusion There is a genetic interaction between 5-HTT gene Stin2.VNTR polymorphism and -1438A / G polymorphism of 5-HTR2A in Chinese children with ADHD (FSIQ and PIQ).