多基因个人资料定义了注意力缺陷多动性障碍临床异质性的方面
Sonja LaBianca1,2, Isabell Brikell2,3, Dorte Helenius1,2
1Institute of Biological Psychiatry, Mental Health Center Sct. Hans, Mental Health Services Copenhagen, Roskilde, Denmark.
Nature genetics
|November 30, 2023
概括
遗传因素有助于注意力缺陷多动障碍 (ADHD) 的各种表现. 这项研究确定了ADHD异质性的特定遗传联系,包括与自闭症谱系障碍 (ASD) 的关联.
科学领域:
- 遗传学 遗传学 是一个
- 神经发育障碍 神经发育障碍
- 精神病学是一个精神病学.
背景情况:
- 注意缺陷多动障碍 (ADHD) 呈现出显著的临床异质性.
- 这种异质性的遗传基础在很大程度上仍未被探索.
- 了解遗传贡献对于阐明ADHD病因至关重要.
研究的目的:
- 调查导致ADHD临床异质性的遗传联系.
- 确定ADHD亚组之间的遗传区别及其与自闭症谱系障碍 (ASD) 等并发症的关系.
- 探索遗传特征对ADHD认知结果的预测价值.
主要方法:
- 一个单个案例研究设计,涉及14,084名被诊断患有多动症的个人.
- 全基因组关联分析,比较有和没有ASD的ADHD病例.
- 多基因分数 (PGS) 分析以区分多动症小组 (例如,与ASD,物质使用障碍,成人发作) 并预测认知表现.
主要成果:
- 鉴定了一种全基因组显著的位,使ADHD与ASD从没有ASD的ADHD区分开来.
- 与对照组和其他子组相比,在患有ASD,物质使用障碍和成人发作的ADHD的ADHD病例中观察到明显的多基因评分 (PGS) 概况.
- 在ADHD病例中诊断ASD的PGS预测了独立队列中的认知表现.
结论:
- 有证据表明,在ADHD中存在显著的遗传异质性.
- 遗传特征可以区分特定的ADHD亚型和并发症.
- 这项研究为研究复杂神经发育障碍中的遗传异质性提供了一个模型.
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