Thapar Anita, Langley Kate, Owen Michael J, O'Donovan Michael C
Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK.
Psychol Med. 2007 Dec;37(12):1681-92. doi: 10.1017/S0033291707000773. Epub 2007 May 17.
Attention deficit hyperactivity disorder (ADHD) is a common, childhood-onset neurodevelopmental disorder with adverse consequences during adult life. Family, twin and adoption studies show that genetic factors contribute to the aetiology of ADHD and that environmental factors also play a role. Family and twin studies have shown the importance of genetic influences on continuity in ADHD over time and in accounting for the co-occurrence of ADHD and conduct disorder problems. In meta-analyses of molecular genetic studies, the 48-bp variable number tandem repeat (VNTR) variant in the dopamine D4 gene and the CA(n) microsatellite marker in the D5 receptor gene have been found to be repeatedly associated with ADHD. Results from meta-analyses of the 480-bp VNTR in the dopamine transporter gene are mixed. Several genetic studies have also identified genetic variants that are related to specific clinical and developmental features of ADHD. In the next few years, a new generation of much larger-scale genetic studies should lead to the identification of further ADHD susceptibility genes. Such studies will also need to be integrated with other areas of neuroscience, clinical and epidemiological research to investigate how specific gene variants exert risk effects, interact with environmental factors and enable identification of the underlying causal mechanisms that lead to ADHD.
注意缺陷多动障碍(ADHD)是一种常见的、起病于儿童期的神经发育障碍,在成年期会产生不良后果。家庭、双胞胎和收养研究表明,遗传因素在ADHD的病因中起作用,环境因素也发挥一定作用。家庭和双胞胎研究显示了遗传影响对ADHD随时间延续的重要性,以及对ADHD与品行障碍问题共现的解释作用。在分子遗传学研究的荟萃分析中,已发现多巴胺D4基因中的48碱基对可变数目串联重复序列(VNTR)变异以及D5受体基因中的CA(n)微卫星标记与ADHD反复相关。多巴胺转运体基因中480碱基对VNTR的荟萃分析结果不一。多项遗传学研究还鉴定出了与ADHD特定临床和发育特征相关的基因变异。在未来几年,新一代规模更大的遗传学研究应能鉴定出更多ADHD易感基因。此类研究还需要与神经科学、临床和流行病学研究的其他领域相结合,以探究特定基因变异如何产生风险效应、与环境因素相互作用,并有助于确定导致ADHD的潜在因果机制。