Genetics of attention deficit hyperactivity disorder.

Genetics of attention deficit hyperactivity disorder.
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注意力缺陷多动障碍的遗传学。

DOI:
10.1038/s41380-018-0070-0
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发表时间:
2019-04
影响因子:
11
通讯作者:
Larsson H
Larsson H
中科院分区:
医学1区
文献类型:
--
作者:
Faraone SV;Larsson H

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数十年的研究表明,基因在注意力缺陷多动障碍(ADHD)的病因及其与其他疾病的合并症中发挥着至关重要的作用。家庭、双胞胎和收养研究表明,多动症在家庭中遗传。 ADHD 高达 74% 的高遗传率促使人们寻找 ADHD 易感基因。遗传连锁研究表明,DNA 风险变异对 ADHD 的单独影响一定非常小。全基因组关联研究(GWAS)表明多个基因位点在全基因组水平上具有统计显着性。这些研究还表明,大约三分之一的多动症遗传力是由于多基因成分造成的,其中包含许多常见的变异,每个变异的影响都很小。从拷贝数变异的研究中,我们还了解到,罕见的插入或缺失是 ADHD 遗传性的部分原因。这些发现暗示了新的生物学途径,最终可能对治疗开发产生影响。
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.
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