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.
Frontiers in psychiatry
|May 16, 2024
概括
罕见的副本数变异 (CNVs) 和对智力的多基因风险 (PRS-IQ) 增加自闭症谱系障碍 (ASD) 风险,无论它们对认知能力的影响如何. 这些遗传因素似乎通过不同的途径影响ASD易感性和认知功能.
科学领域:
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
- 发展心理学 发展心理学
背景情况:
- 罕见的副本数变异 (CNVs) 和对智力的多基因风险 (PRS-IQ) 与自闭症谱系障碍 (ASD) 有关.
- 这些遗传因素对认知能力有相反的影响,使得理解它们在ASD易感性中的作用变得复杂.
- 之前的研究缺乏对照的认知措施,阻碍了对ASD风险和认知的遗传影响的解.
研究的目的:
- 调查罕见的CNVs和PRS-IQ对ASD风险的影响,调整其对认知能力的影响.
- 确定这些遗传变异对ASD风险的影响是否独立于它们对认知功能的影响.
主要方法:
- 对包括8,426名自闭症患者和169,804名对照在内的大量队列的分析.
- 包括所有学科的认知评估.
- 统计建模以调整认知能力的影响.
主要成果:
- 发现罕见编码CNV和PRS-IQ都会增加ASD风险,即使考虑到认知能力.
- CNVs和PRS-IQ在很大程度上显示了对ASD风险和认知能力的附加效应,这表明了独立的贡献.
- 尽管对风险有附加效应,但CNV和PRS-IQ对ASD核心特征和发展史产生了相反的影响.
结论:
- 认知能力可能不是由罕见的CNV和PRS-IQ赋予的ASD责任的主要调解者.
- 自闭症风险和认知能力似乎是受这些遗传变异影响的不同表现.
- 了解ASD的遗传结构及其维度特征仍然是一个复杂的挑战.
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