Department of Psychological, Medicine and Neurology, MRC Centre, for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff, University, United Kingdom.
Neuropsychiatr Dis Treat. 2010 Sep 7;6:551-60. doi: 10.2147/NDT.S11322.
Attention-deficit/hyperactivity disorder (ADHD) is a highly disruptive childhood-onset disorder that often persists into adolescence and adulthood. Comorbidity with other problems, such as autism, dyslexia and conduct disorder (CD) is very common. Although little is known about the pathophysiology of ADHD, family, twin and adoption studies have shown that it is highly heritable. Whole genome linkage studies suggest there are no common susceptibility genes of moderate effect size. Most published research has been based on functional candidate gene studies. The most consistent evidence for association with ADHD relates to a dopamine D4 receptor (DRD4) gene variable number tandem repeat (VNTR), a dopamine D5 receptor (DRD5) gene microsatellite and a dopamine transporter (DAT1) gene VNTR. In addition, the catechol-O-methyltransferase (COMT) val158/108 met variant has been shown to increase risk for associated antisocial behavior. The first genome-wide association studies (GWAS) of ADHD have been completed and although larger studies are still required to detect common risk variants, novel risk pathways are being suggested for ADHD. Further research on the contribution of rare variants, larger genome-wide association and sequencing studies and ADHD phenotype refinement is now needed.
注意缺陷多动障碍（ADHD）是一种高度破坏性的儿童期起病障碍，通常持续到青少年和成年期。与自闭症、诵读困难和品行障碍（CD）等其他问题共病非常常见。尽管对 ADHD 的病理生理学知之甚少，但家族、双胞胎和收养研究表明，它具有高度遗传性。全基因组连锁研究表明，没有中等效应大小的常见易感基因。大多数已发表的研究都是基于功能候选基因研究。与 ADHD 最一致的关联证据与多巴胺 D4 受体（DRD4）基因可变数量串联重复（VNTR）、多巴胺 D5 受体（DRD5）基因微卫星和多巴胺转运体（DAT1）基因 VNTR 有关。此外，儿茶酚-O-甲基转移酶（COMT）val158/108 met 变体已被证明会增加相关反社会行为的风险。ADHD 的第一项全基因组关联研究（GWAS）已经完成，尽管还需要更大的研究来检测常见的风险变异，但 ADHD 的新风险途径正在被提出。现在需要对罕见变异、更大的全基因组关联和测序研究以及 ADHD 表型细化的贡献进行进一步研究。
