使用基因信息大脑图谱发现人类大脑皮层的基因位置
Carolina Makowski1, Dennis van der Meer2,3, Weixiu Dong4
1Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
Science (New York, N.Y.)
|February 3, 2022
概括
遗传变异显著影响大脑结构,许多已识别的位点从童年就存在,并与神经发育和神经心理风险有关. 关键大脑区域的特定基因组元素突出显示了进化影响.
科学领域:
- 神经遗传学
- 大脑的演变
- 人类基因组学
背景情况:
- 了解人类大脑发育及其演变的遗传结构至关重要.
- 全基因组关联研究 (GWAS) 已经确定了与大脑结构相关的遗传位置,但它们的发育轨迹和进化意义需要进一步调查.
研究的目的:
- 研究基因变异对不同年龄组大脑形态,特别是皮质表面积和厚度的影响.
- 探索已识别的基因位置的发育起源和进化保护.
- 将遗传发现与神经发育途径和神经精神风险联系起来.
主要方法:
- 在全基因组关联研究 (GWAS) 中利用了基因信息的大脑图谱.
- 在成年人 (39,898) 和儿童 (9,136) 大群中分析区域皮层表面积和厚度.
- 进行发现队列分析和综合元分析,包括反向多态和人类特异性基因组元素的调查.
主要成果:
- 在发现队列中确定了440个全基因组显著的位置,在综合元分析中确定了800个.
- 与成年人大脑结构相关的遗传位置在儿童时期很大程度上存在,这表明早期的遗传影响和负面选择.
- 发现了表面积减少和厚度增加与反转多态的对立关系,以及在下额叶皮层 (包括布罗卡区域) 丰富人体特异元素.
结论:
- 很大一部分对大脑结构的遗传影响在发育早期就已经确立并被保存下来.
- 遗传发现与早期神经发育,神经心理风险路径和进化过程有关.
- 大脑的遗传景观包括保存和人类特有的元素,反映了它的等级组织和形态遗传梯度.
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