注意缺陷多动障碍的遗传学。

Genetics of attention deficit hyperactivity disorder.

机构信息

Departments of Psychiatry and of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY, 13210, USA.

School of Medical Sciences, Örebro University, Örebro, Sweden.

出版信息

Mol Psychiatry. 2019 Apr;24(4):562-575. doi: 10.1038/s41380-018-0070-0. Epub 2018 Jun 11.

Abstract

Decades of research show that genes play an vital role in the etiology of attention deficit hyperactivity disorder (ADHD) and its comorbidity with other disorders. Family, twin, and adoption studies show that ADHD runs in families. ADHD's high heritability of 74% motivated the search for ADHD susceptibility genes. Genetic linkage studies show that the effects of DNA risk variants on ADHD must, individually, be very small. Genome-wide association studies (GWAS) have implicated several genetic loci at the genome-wide level of statistical significance. These studies also show that about a third of ADHD's heritability is due to a polygenic component comprising many common variants each having small effects. From studies of copy number variants we have also learned that the rare insertions or deletions account for part of ADHD's heritability. These findings have implicated new biological pathways that may eventually have implications for treatment development.

摘要

几十年来的研究表明,基因在注意缺陷多动障碍(ADHD)及其与其他疾病的共病发生中起着至关重要的作用。家庭、双胞胎和收养研究表明,ADHD 具有家族性。ADHD 的高遗传性为 74%,这促使人们寻找 ADHD 的易感基因。遗传连锁研究表明,DNA 风险变异对 ADHD 的影响必须非常小。全基因组关联研究(GWAS)已经在全基因组水平上确定了几个遗传位点。这些研究还表明,大约三分之一的 ADHD 遗传性是由于多基因成分造成的,多基因成分由许多具有较小影响的常见变异组成。我们还从拷贝数变异的研究中了解到,罕见的插入或缺失也导致了 ADHD 遗传性的一部分。这些发现提示了新的生物学途径,最终可能对治疗开发有影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba6f/6477889/532892ce66c6/41380_2018_70_Fig1_HTML.jpg

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