Xue Hui, Xu Xiaojun, Yan Zhihan, Cheng Jingliang, Zhang Longjiang, Zhu Wenzhen, Cui Guangbin, Zhang Quan, Qiu Shijun, Yao Zhenwei, Qin Wen, Liu Feng, Liang Meng, Fu Jilian, Xu Qiang, Xu Jiayuan, Xie Yingying, Zhang Peng, Li Wei, Wang Caihong, Shen Wen, Zhang Xiaochu, Xu Kai, Zuo Xi-Nian, Ye Zhaoxiang, Yu Yongqiang, Xian Junfang, Yu Chunshui
Department of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin 300052, China.
Department of Radiology, The Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou 310009, China.
iScience. 2023 Sep 21;26(10):108005. doi: 10.1016/j.isci.2023.108005. eCollection 2023 Oct 20.
Correlation between blood-oxygen-level-dependent (BOLD) and cerebral blood flow (CBF) has been used as an index of neurovascular coupling. Hippocampal BOLD-CBF correlation is associated with neurocognition, and the reduced correlation is associated with neuropsychiatric disorders. We conducted the first genome-wide association study of the hippocampal BOLD-CBF correlation in 4,832 Chinese Han subjects. The hippocampal BOLD-CBF correlation had an estimated heritability of 16.2-23.9% and showed reliable genome-wide significant association with a locus at 3q28, in which many variants have been linked to neuroimaging and cerebrospinal fluid markers of Alzheimer's disease. Gene-based association analyses showed four significant genes (, , , and ) and revealed enrichment for mast cell calcium mobilization, microglial cell proliferation, and ubiquitin-related proteolysis pathways that regulate different cellular components of the neurovascular unit. This is the first unbiased identification of the association of hippocampal BOLD-CBF correlation, providing fresh insights into the genetic architecture of hippocampal neurovascular coupling.
血氧水平依赖（BOLD）与脑血流量（CBF）之间的相关性已被用作神经血管耦合的指标。海马体BOLD-CBF相关性与神经认知相关，而相关性降低与神经精神疾病相关。我们对4832名中国汉族受试者进行了首次全基因组关联研究，研究海马体BOLD-CBF相关性。海马体BOLD-CBF相关性的遗传度估计为16.2%-23.9%，并在3q28位点显示出可靠的全基因组显著关联，其中许多变异与阿尔茨海默病的神经影像学和脑脊液标志物有关。基于基因的关联分析显示了四个显著基因（、、和），并揭示了肥大细胞钙动员、小胶质细胞增殖和泛素相关蛋白水解途径的富集，这些途径调节神经血管单元的不同细胞成分。这是首次对海马体BOLD-CBF相关性的关联进行无偏识别，为海马体神经血管耦合的遗传结构提供了新的见解。
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