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注意缺陷多动障碍的基因组学:临床医生的最新资讯。

Attention-deficit/hyperactivity disorder genomics: update for clinicians.

机构信息

Department Psychiatry, The University of Pennsylvania, Philadelphia, PA 19104-6209, USA.

出版信息

Curr Psychiatry Rep. 2012 Oct;14(5):579-89. doi: 10.1007/s11920-012-0309-4.

Abstract

Attention deficit, hyperactivity disorder (ADHD) is familial and highly heritable. Several candidate genes involved in neurotransmission have been identified, however these confer minimal risk, suggesting that for the most part, ADHD is not caused by single common genetic variants. Advances in genotyping enabling investigation at the level of the genome have led to the discovery of rare structural variants suggesting that ADHD is a genomic disorder, with potentially thousands of variants, and common neuronal pathways disrupted by numerous rare variants resulting in similar ADHD phenotypes. Heritability studies in humans also indicate the importance of epigenetic factors, and animal studies are deciphering some of the processes that confer risk during gestation and throughout the post-natal period. These and future discoveries will lead to improved diagnosis, individualized treatment, cures, and prevention. These advances also highlight ethical and legal issues requiring management and interpretation of genetic data and ensuring privacy and protection from misuse.

摘要

注意缺陷多动障碍(ADHD)具有家族遗传性且遗传度很高。已鉴定出一些涉及神经递质的候选基因,但这些基因的致病风险很小,这表明 ADHD 大部分情况下并非由单一常见遗传变异引起。基因分型技术的进步使人们能够在基因组水平进行研究,发现了罕见的结构变异,这表明 ADHD 是一种基因组疾病,可能存在数千种变异,并且常见的神经元通路受到多种罕见变异的破坏,导致相似的 ADHD 表型。人类的遗传力研究也表明了表观遗传因素的重要性,动物研究正在揭示在妊娠期和出生后期间赋予风险的一些过程。这些和未来的发现将导致更好的诊断、个体化治疗、治愈和预防。这些进展还突出了需要管理和解释遗传数据、确保隐私并防止滥用的伦理和法律问题。

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