在日本人口中,线粒体遗传变异与双相情感障碍和精神分裂症相关
Ryobu Tachi1, Kazutaka Ohi2,3, Daisuke Nishizawa4
1School of Medicine, Gifu University, Gifu, Japan.
International journal of bipolar disorders
|July 21, 2023
概括
在NADH脱酶基因中的线粒体遗传变异与日本人的双相情感障碍 (BD) 和精神病障碍 (PSY) 有关. 这些发现表明线粒体功能障碍在这些复杂疾病的发病过程中起着作用.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 线粒体生物学 线粒体生物学
背景情况:
- 双极性障碍 (BD) 和精神分裂症 (SZ) 是由遗传和环境因素影响的复杂精神障碍 (PSY).
- 以前对BD和SZ线粒体遗传变异的研究已经产生了不一致的结果,并且仅限于欧洲祖先.
- 这项研究调查了日本人口中线粒体基因组范围内的遗传变异与BD,SZ和PSY的关联.
研究的目的:
- 在一个日本队列中,确定线粒体遗传变异与双相情感障碍 (BD),精神分裂症 (SZ) 和精神病障碍 (PSY) 之间的关联.
- 探索线粒体DNA在这些精神疾病的病因学中的潜在作用.
- 扩大对BD和SZ遗传因素的研究范围,超出欧洲人口范围.
主要方法:
- 一项全基因组关联研究对420名日本人 (51名BD,172名SZ,197名健康对照) 进行.
- 分析了小等位基因频率 (MAF) > 0.01 (45种变异) 的线粒体遗传变异.
- 在进行关联分析之前,对个体和遗传变异进行了质量控制.
主要成果:
- 在NADH脱酶基因附近的三种线粒体遗传变异 (rs200478835,rs200044200,rs28359178) 与BD显著相关 (PGC=0.045-4.9×10-3).
- 一种变体 (rs200478835) 与PSY有显著的关联.
- 误解变体rs200044200仅在BD患者中发现 (MAF=0.059),而不是在健康对照中 (几率比=∞).
结论:
- 与NADH脱酶相关的基因中的线粒体遗传变异可能有助于日本人口中BD和PSY的发病.
- 线粒体功能障碍,可能是由于这些遗传变异,可能在这些疾病的发展中发挥作用.
- 这些发现凸显了在不同种族群体的精神疾病中研究线粒体遗传学的重要性.
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