美国北卡罗来纳大学教堂山分校朱宏图研究组取得一项新突破。他们揭示影响人类白质微结构的常见遗传变异。相关论文发表在2021年6月18日出版的《科学》杂志上。

他们使用 43,802 个人的扩散磁共振成像确定了影响多束有髓轴突（通常称为白质）微观结构的常见遗传变异。全基因组关联分析确定了 109 个相关位点，其中 30 个能通过特定区域的功能主成分分析检测到。 许多位点与脑部疾病共定位，例如神经胶质瘤和中风。观察到白质微观结构与 57 种复杂性状和疾病之间的遗传相关性。

与白质微结构相关的常见变异改变了神经胶质细胞，特别是少突胶质细胞中调节元件的功能。这项大规模的针对特定区域的研究促进了对白质遗传结构及其与广泛临床预后的遗传联系的理解。

研究人员表示，大脑区域通过白质相互交流。

附：英文原文

Title: Common genetic variation influencing human white matter microstructure

Author: Bingxin Zhao, Tengfei Li, Yue Yang, Xifeng Wang, Tianyou Luo, Yue Shan, Ziliang Zhu, Di Xiong, Mads E. Hauberg, Jaroslav Bendl, John F. Fullard, Panagiotis Roussos, Yun Li, Jason L. Stein, Hongtu Zhu

Issue&Volume: 2021/06/18

Abstract: Brain regions communicate with each other through tracts of myelinated axons, commonly referred to as white matter. We identified common genetic variants influencing white matter microstructure using diffusion magnetic resonance imaging of 43,802 individuals. Genome-wide association analysis identified 109 associated loci, 30 of which were detected by tract-specific functional principal components analysis. A number of loci colocalized with brain diseases, such as glioma and stroke. Genetic correlations were observed between white matter microstructure and 57 complex traits and diseases. Common variants associated with white matter microstructure altered the function of regulatory elements in glial cells, particularly oligodendrocytes. This large-scale tract-specific study advances the understanding of the genetic architecture of white matter and its genetic links to a wide spectrum of clinical outcomes.

DOI: 10.1126/science.abf3736

Source: https://science.sciencemag.org/content/372/6548/eabf3736