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对160多万参与者的全基因组分析揭示了与阻塞性睡眠呼吸暂停相关的147个位置

Luis M García-Marín^1,2, Zuriel Ceja^1,2, Abishna Parasuraman³

¹Brain and Mental Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

medRxiv : the preprint server for health sciences

|November 26, 2025

概括

这项研究确定了阻塞性睡眠呼吸暂停 (OSA) 的147个遗传位置,并发现了重要的遗传成分. 多基因风险评分预测了OSA和相关特征,揭示了与神经和精神疾病的联系.

科学领域:

遗传学遗传学是一个
睡眠医学睡眠医学
神经科学是一个神经科学.

背景情况:

阻塞性睡眠呼吸暂停 (OSA) 是一种普遍存在的疾病,对健康有重大影响.
目前尚不完全了解OSA的遗传结构,因此需要进行大规模的遗传研究.
以前的研究表明OSA的遗传成分,但特定的遗传基因位置和途径在很大程度上仍未确定.

研究的目的:

进行最大的全基因组关联研究 (GWAS) 对阻塞性睡眠呼吸暂停 (OSA) 的元分析.
识别与不同祖先的OSA风险相关的新型遗传位置.
研究涉及OSA病变的神经生物学途径及其与其他疾病的关系.

主要方法:

使用欧洲祖先的遗传数据 (N=1,608,199) 对OSA进行了大规模的GWAS元分析.
在非洲人口中进行了单独的元分析 (N=196,026).
利用基因丰富分析和多基因风险评分来探索生物途径和预测效用.

主要成果:

在欧洲祖先的元分析中确定了147个与OSA相关的独立遗传位点.
估计基于SNP的OSA遗传率为16%.
从非洲人口元分析中报告了六个独立的位点.
在GABAergic和谷氨酸酸通路,突触传递和细胞骨重塑中观察到基因丰富.
证明OSA多基因风险评分预测OSA状态和不同祖先的睡眠特征.
确定了OSA和ADHD,抑郁症,慢性疼痛,BMI和精神分裂症之间的假定因果关系.

结论:

OSA具有相当大的遗传成分,独立于体重指数.
独特的神经生物学途径,特别是涉及突触功能和皮质体回的途径,与OSA风险有关.
对OSA的遗传洞察力可以为了解其与其他神经和精神疾病的共同发生提供信息.

关键词:

在 AGDS 中,我们可以使用 AGDS.这就是CLSA CLSA.在GWAS中,GWAS就是GWAS.广州生物银行广州生物银行这就是MGB生物银行.睡眠睡眠睡眠睡眠英国生物银行遗传学遗传学遗传学是一个这是一个元分析.睡眠呼吸暂停睡眠呼吸暂停

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