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过早生育和自闭症谱系障碍的遗传责任

Yali Zhang^1,2, Ashraf Yahia^1,2, Sven Sandin^3,4,5

¹Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet.

medRxiv : the preprint server for health sciences

|November 28, 2024

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,遗传因素增加了 ASD 在早产婴儿的可能性,特别是男性.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一种遗传学.
儿科儿科儿科

背景情况:

自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,具有显著的遗传影响.
环境因素,如早产,与ASD风险增加有关,但它们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 (ASD) 的综合影响.
探索遗传因素和早产如何影响ASD呈现和风险.

主要方法:

从大型ASD队列 (SPARK,SSC) 分析表型和遗传数据,包括基因组和外体序列.
利用通用估计方程 (GEE) 模型来评估罕见变异负担和多基因风险评分 (PRS).
开发了一种机器学习模型,使用出生时间数据预测早产婴儿的ASD.

主要成果:

过早分娩加剧了ASD表型严重程度,与ASD遗传因素无关.
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.
较高的ASD PRS,早产和男性性别显著增加了ASD的概率,接近90%.

结论:

过早分娩可能会使ASD多发性恶化,但遗传因素会增加早产婴儿的ASD可能性.
对于ASD的多基因负载与早产相互作用,特别是在男性中.
将遗传评估纳入新生儿护理可以改善早产婴儿的ASD识别和干预.

关键词:

自闭症谱系障碍自闭症谱系障碍一般化估计方程模型的模型.遗传学遗传学是一种遗传学.机器学习机器学习多基因风险评分多基因风险评分.过早生育过早生育

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