过早生育和自闭症谱系障碍的遗传责任
Yali Zhang1,2, Ashraf Yahia1,2, Sven Sandin3,4,5
1Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Genome medicine
|October 2, 2025
概括
过早分娩可能会使自闭症谱系障碍 (ASD) 症状恶化,独立于遗传风险. 然而,遗传因素和早产共同增加了ASD的可能性,特别是在男性中.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 发育儿科 发育儿科
背景情况:
- 自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,具有显著的遗传和环境影响.
- 过早出生是与ASD风险增加相关的环境因素,但其与遗传倾向的相互作用尚未完全理解.
研究的目的:
- 研究遗传责任和早产对自闭症谱系障碍的综合影响.
- 探索在被诊断患有ASD的早产婴儿中遗传变异和多基因风险的作用.
主要方法:
- 来自大型队列 (SPARK,SSC) 的表型和遗传数据的分析,包括超过78,000个人.
- 使用一般化估计方程 (GEE) 和多基因风险评分 (PRS) 评估罕见变异负担.
- 开发一种机器学习模型,利用可用的出生数据预测早产儿的ASD.
主要成果:
- 患有早产和ASD的个体表现出更严重的结果,与患有ASD的个体相似的遗传责任.
- 与非ASD早产婴儿相比,患有ASD的早产婴儿的de novo变异率更高.
- 更高的ASD多基因风险评分,早产和男性性别与ASD概率增加有关 (在一个模型中接近90%).
结论:
- 过早分娩可能会加剧ASD多发症,而不是直接由于ASD相关的遗传变异.
- 增加与ASD相关的罕见变异可能会提高早产婴儿的ASD诊断可能性.
- 多基因负载和早产对ASD预测有加重作用,特别是在男性中,突出了对早产婴儿早期ASD识别的综合数据的需求.
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