早期发病的精神分裂症与中国样本中的免疫相关的罕见变异有关
medRxiv : the preprint server for health sciences
|December 4, 2023
概括
罕见的变种有助于中国人口的精神分裂症 (SCZ) 风险. 改变的免疫反应可能特别驱动早期发病的SCZ,这表明新的治疗点.
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:
- 精神分裂症 (SCZ) 遗传概率估计表明罕见变异有显著作用.
- 罕见变异对SCZ的贡献可能根据发病年龄 (AAO) 不同,早期发病可能表明神经发育异常.
研究的目的:
- 调查中国队列中罕见有害编码变异与早期发病的SCZ (EOS) 和成人发病的SCZ (AOS) 的关联.
- 探索稀有变异和SCZ中的AAO之间的关系.
主要方法:
- 对197名SCZ患者和82名中国血统的健康对照 (HC) 进行了外体序列测序.
- 预测具有中等或高影响的罕见变体使用序列内核关联测试 (SKAT) 来分析与SCZ,EOS和AOS的关联.
- 使用定量罕见变异关联测试来评估与AAO的相关性.
主要成果:
- 七个候选风险基因和20个基因本体生物学过程 (GOBP) 术语显示,SCZ病例的负担比对照病例更高.
- 5个候选风险基因和7个GOBP途径的改变与AAO有显著的相关性.
- 研究结果表明,免疫反应的改变可能与EOS有关,以及SCZ中神经系统的一般扰乱.
结论:
- 罕见变种增加了中国人口中SCZ风险.
- 破坏免疫反应可能会加剧神经发育异常,可能引发早期SCZ.
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