马赛克损失与精神分裂症或双相情感障碍之间的关联
Shunsuke Uchiyama1,2, Takeo Saito3, Xiaoxi Liu1
1Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Molecular psychiatry
|January 14, 2026
概括
血液中的马赛克染色体变化 (mCA) 与精神分裂症 (SCZ) 和双相情感障碍 (BD) 有关,特别是在年轻人中. 这些发现表明,在这些精神疾病中,有共同的生物学途径.
科学领域:
- 遗传学 是一个遗传学.
- 精神病学是一个精神病学.
- 细胞生物学 细胞生物学
背景情况:
- 众所周知,马赛克染色体变化 (mCA) 在脑组织中积累,并与精神疾病有关.
- 关于精神分裂症 (SCZ) 和双相情感障碍 (BD) 的循环血液中mCA的作用需要进一步调查.
研究的目的:
- 评估血液中的mCA与SCZ和BD的患病率之间的关联.
- 探索细胞分数 (CF) 对mCA的影响及其与SCZ和BD遗传风险得分的潜在相互作用.
主要方法:
- 在包括SCZ,BD和对照对象在内的大型队列的血液样本中检测到mCAs.
- 利用年龄调整后勤回归模型来评估关联,包括对年龄和高细胞分数 (CF) mCA 的子组分析.
- 研究了SCZ和BD的mCA和多基因风险评分 (PRS) 之间的相互作用.
主要成果:
- 自体mCA,特别是损失事件,在SCZ和BD患者中显著增加.
- 这些关联在年轻人中更为明显,与增加的CF相关的损失事件的效果大小更高.
- 高细胞分数损失事件表明与SCZ中的多基因风险得分相互作用.
结论:
- 血中马赛克损失的高负担是SCZ和BD的特征,特别是在年轻患者中,表明常见的体质病理生理机制.
- 这些发现表明,在SCZ的发展中,遗传倾向和环境因素之间的潜在相互作用.
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