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与颅内动脉瘤相关的基因多态性和转录谱：NOTCH3的关键作用。

Genetic polymorphisms and transcription profiles associated with intracranial aneurysm: a key role for NOTCH3.

作者信息

Li Mengqi, Dong Xinlong, Chen Shi, Wang Weihan, Yang Chao, Li Bochuan, Liang Degang, Yang Weidong, Liu Xiaozhi, Yang Xinyu

机构信息

Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin 300052, China.

Tianjin Neurological Institute, Key Laboratory of Post-trauma Neuro-repair and Regeneration in Central Nervous System, Ministry of Education, Tianjin Key Laboratory of Injuries, Variations and Regeneration of Nervous System, Tianjin 300052, China.

出版信息

Aging (Albany NY). 2019 Jul 23;11(14):5173-5191. doi: 10.18632/aging.102111.

DOI:10.18632/aging.102111
PMID:31339861
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6682524/
Abstract

Intracranial aneurysm (IA) incidence is about 1~2%. However, the specific mechanisms of IA onset and development need further study. Our objective was to discover novel IA-related genes to determine possible etiologies further. We performed next-generation sequencing on nineteen Chinese patients with familial IA and one patient with sporadic IA. We obtained mRNA expression data of 129 samples from Gene Expression Omnibus (GEO) and made statistical computing to discover differentially expressed genes (DEGs). The screened IA-related gene was determined by bioinformatic data mining. We verified the IA-related indicators of NOTCH3. Association was found between IA and the SNPs rs779314594, rs200504060 and rs2285981. Levels of mRNA were lower in IA tissue than in control tissue, but higher in peripheral blood neutrophils from IA patients than in neutrophils from controls. Levels of NOTCH3 protein were lower in IA tissue than in cerebral artery tissue. NOTCH3 also decreased the expression of angiogenesis factors in human umbilical vein endothelial cells. Variation in NOTCH3 and alteration of its expression in cerebral artery or neutrophils may contribute to IA. Our findings also describe a bioinformatic-experimental approach that may prove useful for probing the pathophysiology of other complex diseases.

摘要

颅内动脉瘤（IA）的发病率约为1%至2%。然而，IA发病和发展的具体机制仍需进一步研究。我们的目标是发现与IA相关的新基因，以进一步确定可能的病因。我们对19例中国家族性IA患者和1例散发性IA患者进行了二代测序。我们从基因表达综合数据库（GEO）获取了129个样本的mRNA表达数据，并进行统计计算以发现差异表达基因（DEG）。通过生物信息学数据挖掘确定筛选出的与IA相关的基因。我们验证了NOTCH3与IA相关的指标。发现IA与单核苷酸多态性（SNP）rs779314594、rs200504060和rs2285981之间存在关联。IA组织中NOTCH3 mRNA水平低于对照组织，但IA患者外周血中性粒细胞中的NOTCH3 mRNA水平高于对照中性粒细胞。IA组织中NOTCH3蛋白水平低于脑动脉组织。NOTCH3还降低了人脐静脉内皮细胞中血管生成因子的表达。NOTCH3的变异及其在脑动脉或中性粒细胞中的表达改变可能与IA有关。我们的研究结果还描述了一种生物信息学实验方法，该方法可能对探究其他复杂疾病的病理生理学有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/b1b270d1737a/aging-11-102111-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/b1d6b42c1e0b/aging-11-102111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/be1d3317e500/aging-11-102111-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/0da43f14799b/aging-11-102111-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/b24aef111a84/aging-11-102111-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/93f1e4b93eab/aging-11-102111-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/416b0cae3aa1/aging-11-102111-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/b1b270d1737a/aging-11-102111-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/b1d6b42c1e0b/aging-11-102111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/be1d3317e500/aging-11-102111-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/0da43f14799b/aging-11-102111-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/b24aef111a84/aging-11-102111-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/93f1e4b93eab/aging-11-102111-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/416b0cae3aa1/aging-11-102111-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f88a/6682524/b1b270d1737a/aging-11-102111-g007.jpg

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Neuropsychiatr Dis Treat. 2019 Apr 2;15:779-783. doi: 10.2147/NDT.S193478. eCollection 2019.
2
Biomarkers from circulating neutrophil transcriptomes have potential to detect unruptured intracranial aneurysms.循环中性粒细胞转录组的生物标志物具有检测未破裂颅内动脉瘤的潜力。
J Transl Med. 2018 Dec 28;16(1):373. doi: 10.1186/s12967-018-1749-3.
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TNF-α-Induced YAP/TAZ Activity Mediates Leukocyte-Endothelial Adhesion by Regulating VCAM1 Expression in Endothelial Cells.
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Front Physiol. 2021 Jan 21;11:572605. doi: 10.3389/fphys.2020.572605. eCollection 2020.
TNF-α 诱导的 YAP/TAZ 活性通过调节内皮细胞中 VCAM1 的表达来介导白细胞-内皮细胞黏附。
Int J Mol Sci. 2018 Nov 1;19(11):3428. doi: 10.3390/ijms19113428.
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Inflammatory changes in the aneurysm wall: a review.动脉瘤壁的炎症改变：综述。
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