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整个表观基因组的分析确定了与婴儿瞳孔光反射相关的DNA甲基化特征,这是自闭症的候选中间表型

Laurel A Fish^1,2, Teodora Gliga³, Anna Gui^4,5

¹Department of Clinical, Educational and Health Psychology, University College London, London, UK.

Scientific reports

|January 8, 2026

概括

全表观基因组关联分析揭示了与高家族自闭症风险的男性婴儿瞳孔光反射 (PLR) 相关的DNA甲基化差异. 这些发现支持PLR作为神经发育差异的潜在早期指标.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
发展生物学发展生物学

背景情况:

瞳孔光反射 (PLR) 是对光的反应,瞳孔自动收缩.
由于其简单的神经电路,PLR是自闭症的潜在早期中间表型.
了解早期神经发育差异对于自闭症研究至关重要.

研究的目的:

调查与高家族自闭症风险的男性婴儿中PLR发病延迟和收缩幅度相关的全表观基因组DNA甲基化模式.
探索DNA甲基化和PLR特征的发育变化之间的关系.

主要方法:

在9个月大时,对51名男性婴儿 (80%具有一级自闭症亲属) 的口腔DNA进行了全表观基因组关联分析.
在9,14和24个月测量了PLR发病延迟和收缩幅度.
统计分析确定了不同的甲基化探针和与PLR特征相关的区域.

主要成果:

四个全表观基因组差异甲基化探针与14个月和24个月的PLR潜伏期及其发育变化有显著关联.
多个不同的甲基化区域与PLR延迟和振幅有关.
相关的探针对神经发育过程和自闭症相关基因 (例如NR4A2,HNRNPU,NAV2) 进行了丰富.

结论:

基因甲基化在幼虫光反射的早期变异中起作用.
这些发现支持瞳孔光反射作为一种有价值的早期中间表型,用于研究自闭症.
这项研究为PLR与男性婴儿家族自闭症可能性相关的生物学基础提供了新的见解.

关键词:

自闭症自闭症自闭症通过DNA甲基化.表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.中间的现象型中间的现象型.瞳孔光反射 (PLR) 是一种反射.

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