精神分裂症中的加速皮层稀疏与罕见和常见的倾向性变异与精神分裂症和神经发育障碍相关
Javier González-Peñas1, Clara Alloza1, Rachel Brouwer2
1Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, Madrid, Spain; Instituto de Investigación Sanitària Gregorio Marañón, Madrid, Spain; CIBERSAM, Madrid, Spain.
加快皮质稀疏,而不仅仅是厚度,与精神分裂症的神经发育问题有关. 在稀薄区域表达不足的基因与精神病和神经发育障碍有关.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 精神病学是一个精神病学.
背景情况:
- 精神分裂症表现出显著的遗传性和广泛的皮质稀释.
- 以前的研究表明,精神分裂症和皮层厚度的共同遗传基础.
- 然而,与精神分裂症中皮层稀释异常相关的特定基因仍然未被确定.
研究的目的:
- 在精神分裂症患者中识别与加速皮层稀释相关的基因.
- 探索这些已识别的基因的功能和遗传基础.
- 为了确定加速稀疏是否是一个比精神分裂症的基线厚度更有信息的表型.
主要方法:
- 使用线性混合模型进行纵向分析,以评估169名精神分裂症患者和298名对照患者 (16至70岁) 的皮质稀薄率.
- 基因表达数据 (艾伦人类大脑图谱) 和区域加速稀释估计之间的相关性分析.
- 探索关键基因的功能和遗传关联,这些关键基因与加速瘦身有关.
主要成果:
- 与对照人群相比,精神分裂症患者表现出加速皮质稀释的全球模式.
- 在加速稀薄的区域表达不足的基因在精神疾病中被降低调节.
- 这些基因显示了与精神分裂症和神经发育障碍相关的遗传变异的丰富,与基线厚度测量不同.
结论:
- 加快皮层稀释是理解精神分裂症神经发育障碍的一个重要表型.
- 已识别的遗传和转录组因子与加速变瘦相关.
- 进一步的纵向研究对于了解基因变异和基因表达动态在精神分裂症大脑发育和衰老中的作用至关重要.
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