注意缺陷多动障碍与多巴胺β羟化酶基因多态性的关系

Association of dopamine β-hydroxylase polymorphism with attention deficit hyperactivity disorder in children

目的 :探讨注意力缺陷多动障碍 (ADHD)的不同亚型与多巴胺 β 羟化酶基因 (DBH) 5′侧翼区 10 2 1C→T多态的关系。方法 :以DSM Ⅳ诊断标准为依据 ,选择 2 92个ADHD汉族核心家系作为研究对象 ,采用以家系为基础的遗传统计学方法研究DBH 10 2 1C→T多态和ADHD各亚型之间的关系 ,并按照性别进行了分组比较。结果 :基于单体型的单体型相对危险度 (HHRR)结果显示DBH 10 2 1C→T多态与ADHD I(P =0 .0 6 7)和ADHD C(P =0 .0 76 )不存在传递不平衡 ,但有传递不平衡趋势。在男孩核心家系中 ,DBH 10 2 1C→T多态与ADHD C存在传递不平衡 (P =0 .0 4 ) ,T等位基因的RR =2 .0 11(P =0 .0 2 )。结论 :DBH基因与ADHD I、ADHD C存在关联趋势 ,与男孩ADHD C相关联。T等位基因为其危险因素。

Objective: To study the association of dopamine β-hydroxylase gene 5′ flanking region polymorphism -1021 C→T with attention deficit hyperactivity disorder (ADHD) in Han children. Methods: ADHD was diagnosed according to the DSM-Ⅳ criteria . DNA was extracted and PCR was performed to examine the DBH-1021C→T polymorphism. HHRR was used to test the association of dopamine β-hydroxylase gene with different subtypes of ADHD. Results: HHRR results showed this polymorphism had a tendency to be associated with the inattention subtype (P=0.067) and the combined subtype (P=0.076). The T allele was the protective factor of the inattentive subtype (P= 0.07), and the risk factor of the combined subtype (P=0.08). After dividing the 292 nuclear families according to sex, DBH-1021C→T polymorphism was found to be associated with the combined subtype (P=0.04) with the T allele as the risk factor (P=0.02). There were no positive findings among the girl nuclear families of ADHD. Conclusion: DBH gene is related to ADHD combined subtype and inattention subtype. The genetic basis of ADHD combined subtype and is inattention is different, and is influenced by sex factor.