常见和罕见的遗传变异解释了儿科注意力缺陷多动性障碍的诊断差异
Anne B Arnett1, Ryan Koesterer2, Paulina Gonzalez Tovar3
1Division of Developmental Medicine, Boston Children's Hospital, Brookline, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Psychiatry, Harvard Medical School, Boston, MA.
遗传研究表明,注意力缺陷多动症 (ADHD) 具有独特的遗传途径,涉及罕见和常见的变体. 排除罕见变异可能会改善未来的ADHD遗传研究.
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
- 儿科精神病学 儿科精神病学
背景情况:
- 注意缺陷多动症 (ADHD) 是一种高度遗传的神经发育障碍.
- 导致ADHD的精确遗传结构仍然不完全理解.
研究的目的:
- 通过检查罕见和常见的遗传变异来研究ADHD的独特遗传途径.
- 为了测试罕见和常见变体对ADHD病因有独立的贡献的假设.
主要方法:
- 基因组测序对150名儿童ADHD病例和370名对照进行了测序.
- 计算和比较ADHD和智商的多基因分数.
- 使用定制管道识别了罕见变体,并根据ACMG指南进行分类.
主要成果:
- 与对照人群相比,ADHD病例的ADHD多基因分数较高,智商多基因分数较低.
- 在13%的ADHD病例中发现了可能致病的罕见变异,而对照组只有0.5%.
- 没有罕见变异的ADHD病例具有更高的多基因得分,这表明不同的遗传贡献.
结论:
- ADHD的遗传基础是多因素的,受常见和罕见遗传变异的影响.
- 排除具有罕见变异的个体可能会增强ADHD全基因组关联研究的力量.
- 了解常见和罕见变异的相互作用对于推进ADHD遗传学至关重要.
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