The Progress of Peripheral Biomarkers and Multi-omics of Cerebral Small Vessel Disease

doi:10.3969/j.issn.1673-5765.2023.03.013

Abstract

Abstract: Cerebral small vessel disease (CSVD) has high morbidity, and its complicated etiology makes it difficult to accurately diagnose, classify and follow up. The over 50 genetic loci in genomics of CSVD have been identified to be independently associated with CSVD, which involve the structure and function of extracellular matrix, myelination, membrane transport and other pathophysiological mechanism, and are also related to clinical features. The transcriptomics studies found that a variety of miRNAs were differentially expressed in CSVD dementia patients and healthy controls; the relevant studies found large heterogeneity in proteomics of CSVD, suggesting that the specific combination of protein biomarkers may be helpful for the diagnosis and classification of CSVD; host-microbiomics studies also have found the pathogenic mechanism of gut-microbiota-immune-brain axis in CSVD. The different omics data further explained the pathogenesis of CSVD, and found a series of biomarkers that were helpful for prediction, diagnosis and prognosis assessment of CSVD. In addition, the data of multi-omics integration are expected to bring breakthrough in prevention, early accurate diagnosis and individualized treatment of CSVD. The progress of the peripheral biomarkers of CSVD in multi-omics and the current status of multi-omics integration application were reviewed in this paper.

Key words: Cerebral small vessel disease; Multi-omics; Biomarker

摘要： 脑小血管病（cerebral small vessel disease，CSVD）发病率高，病因复杂，精确诊断、分类和随访较为困难。目前，CSVD基因组学已发现超过50个独立遗传位点与CSVD发病风险相关，涉及细胞外基质组成、髓鞘形成、膜转运等病理生理机制，且与临床表现相关。转录组学发现多种微小RNA在CSVD痴呆患者和健康对照中差异性表达；蛋白组学研究异质性较大，提示需选用蛋白质标志物的特定组合才可能有助于CSVD的诊断和分型；宿主-微生物组学研究提示CSVD存在肠道-免疫-脑轴的致病机制。不同组学水平数据进一步阐释了CSVD的发病机制，并发现了一系列有助于CSVD明确预测、诊断和预后评估的生物标志物。此外，多组学数据的整合有望带来预防、早期精准诊断和个体化治疗的突破。本文就CSVD不同组学水平外周标志物的研究进展以及多组学整合应用的现状进行综述，以期提高CSVD的预测和早期诊断率。

关键词: 脑小血管病; 多组学; 生物标志物

CHEN Yuewei, XU Qun.

The Progress of Peripheral Biomarkers and Multi-omics of Cerebral Small Vessel Disease

[J]. Chinese Journal of Stroke, 2023, 18(03): 340-346.

陈悦薇, 徐群. 脑小血管病的外周标志物及其多组学研究进展[J]. 中国卒中杂志, 2023, 18(03): 340-346.

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