人体体及其子区域的遗传结构
Ravi R Bhatt1, Shruti P Gadewar1, Ankush Shetty1
1Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, CA, USA.
遗传变异会影响体 (CC) 的大小和形状,影响大脑发育和神经精神疾病. 免疫系统活动可能会导致特定的CC区域的稀释.
科学领域:
- 神经遗传学 神经遗传学
- 脑部成像 脑部成像
- 发育神经科学的发展神经科学.
背景情况:
- 体 (CC) 对于半球间通信,感官运动协调和认知功能至关重要.
- 了解CC形态学的遗传基础是了解大脑发育和神经精神疾病的关键.
研究的目的:
- 开发一个人工智能工具,用于中部CC形态分析.
- 通过大规模的遗传研究来识别与CC形态学相关的遗传变异.
- 探索CC结构,皮层发育和神经精神疾病之间的遗传重叠.
主要方法:
- 开发了一种基于人工智能的新型工具,用于CC形态测量提取和分片.
- 对英国生物库和ABCD队列 (N=46,685名欧洲参与者) 进行了全基因组关联研究 (GWAS) 分析.
- 在非欧洲队列中检查了概括性,并进行了GWAS后的分析.
主要成果:
- 确定了与CC形态学相关的遗传变异,涉及产前细胞内组织和细胞生长.
- 在开放的染色体区域中发现了高遗传性,这表明在早期发育中发生了转录调节.
- 通过免疫系统将编程细胞死亡与后CC体和脉的稀释联系在一起.
- 揭示了CC,大脑皮层和ADHD和双相情感障碍等疾病之间的遗传重叠和因果关系.
结论:
- 遗传因素显著影响CC发育及其形态.
- CC结构与大脑皮层发育和神经精神疾病有遗传联系.
- 免疫介导的细胞死亡在CC稀释中起作用,为疾病机制提供了洞察力.
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