自闭症谱系障碍和认知特征之间的双向遗传重叠
Sigrun Hope1,2,3, Alexey A Shadrin4,5, Aihua Lin5
1K.G. Jebsen Centre for Neurodevelopmental Disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Sigrun.hope@ous-hf.no.
Translational psychiatry
|September 14, 2023
概括
这项研究揭示了自闭症谱系障碍 (ASD) 和智力和教育等认知能力之间的共同遗传因素. 患有自闭症的常见遗传风险可以影响较高和较低的认知功能,影响小脑等大脑区域.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 精神病学是一个精神病学.
背景情况:
- 自闭症谱系障碍 (ASD) 是高度遗传的,具有不同的认知结果.
- 了解自闭症和认知特征之间的遗传重叠至关重要.
研究的目的:
- 调查ASD,智力 (INT) 和教育成就 (EDU) 之间的共同遗传架构.
- 确定与ASD和认知特征共同相关的特定遗传位置.
主要方法:
- 全基因组关联研究 (GWAS) 对ASD,INT和EDU的数据.
- 双变因混合模型 (MiXeR) 用于估计共享的遗传变异.
- 局部分析共变量注释 (LAVA) 和条件错误发现率 (cond/conjFDR) 用于位置识别.
主要成果:
- 与ASD相关的大量遗传变异也与EDU (12.0k) 和INT (11.1k) 共享.
- 在ASD和EDU (rg=0.21) 和INT (rg=0.22) 之间观察到适度的正基因相关性.
- 43个位置与ASD和认知特征共同相关,其中27个与ASD有关;功能分析表明小脑和前皮层的基因表达差异.
结论:
- 共同的遗传因素有助于ASD风险和认知功能,影响一系列认知能力.
- 这些共同的遗传基础突出了影响ASD认知变化的复杂生物途径.
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