拷贝数变异和对智力的多基因风险会给自闭症谱系障碍带来风险,无论它们对认知能力的影响如何
Zoe Schmilovich1,2,3, Vincent-Raphaël Bourque3,4, Elise Douard3,4
1Department of Human Genetics, McGill University, Montréal, QC, Canada.
medRxiv : the preprint server for health sciences
|December 11, 2023
概括
罕见的副本数变异 (CNVs) 和对智力的多基因风险 (PRS-IQ) 增加了自闭症谱系障碍 (ASD) 风险,而不依赖于认知能力. 这些遗传因素对ASD风险和认知功能有相反的影响,这表明不同的遗传途径.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 发展障碍 发展障碍 发展障碍
背景情况:
- 自闭症谱系障碍 (ASD) 风险受到罕见副本数变异 (CNVs) 和智力多基因风险 (PRS-IQ) 的影响.
- 这些遗传因素对认知能力有相反的影响,使研究它们对ASD风险的影响变得复杂.
- 之前的研究缺乏对照的认知措施,阻碍了对认知与ASD风险的遗传影响的解.
结论:
- 罕见的CNV和PRS-IQ所带来的自闭症风险似乎独立于它们对认知能力的影响.
- 认知能力可能不是与这些遗传变异相关的自闭症风险的主要驱动因素;它们可能代表不同的表现.
- 这些发现凸显了将ASD遗传风险映射到其维度特征上的复杂性.
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