细胞外基质在主动脉瘤疾病中的遗传学研究。
Genetics of the extracellular matrix in aortic aneurysmal diseases.
机构信息
Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
出版信息
Matrix Biol. 2018 Oct;71-72:128-143. doi: 10.1016/j.matbio.2018.04.005. Epub 2018 Apr 12.
Abstract
Aortic aneurysms are morbid conditions that can lead to rupture or dissection and are categorized as thoracic (TAA) or abdominal aortic aneurysms (AAA) depending on their location. While AAA shares overlapping risk factors with atherosclerotic cardiovascular disease, TAA exhibits strong heritability. Human genetic studies in the past two decades have successfully identified numerous genes involved in both familial and sporadic forms of aortic aneurysm. In this review we will discuss the genetic basis of aortic aneurysm, focusing on the extracellular matrix and how insights from these studies have informed our understanding of human biology and disease pathogenesis.
摘要
主动脉瘤是一种病态的疾病，可能导致破裂或夹层，并根据其位置分为胸主动脉瘤（TAA）或腹主动脉瘤（AAA）。虽然 AAA 与动脉粥样硬化性心血管疾病有重叠的危险因素，但 TAA 表现出很强的遗传性。在过去的二十年中，人类遗传研究成功地鉴定了许多涉及家族性和散发性主动脉瘤的基因。在这篇综述中，我们将讨论主动脉瘤的遗传基础，重点讨论细胞外基质，以及这些研究如何为我们对人类生物学和疾病发病机制的理解提供信息。
相似文献
1
Genetics of the extracellular matrix in aortic aneurysmal diseases.细胞外基质在主动脉瘤疾病中的遗传学研究。
Matrix Biol. 2018 Oct;71-72:128-143. doi: 10.1016/j.matbio.2018.04.005. Epub 2018 Apr 12.
2
Genetic and Epigenetic Regulation of Aortic Aneurysms.主动脉瘤的遗传与表观遗传调控
Biomed Res Int. 2017;2017:7268521. doi: 10.1155/2017/7268521. Epub 2017 Jan 1.
3
The genetic basis for aortic aneurysmal disease.主动脉瘤病的遗传学基础。
Heart. 2014 Jun;100(12):916-22. doi: 10.1136/heartjnl-2013-305130.
4
Is there an immunogenomic difference between thoracic and abdominal aortic aneurysms?胸主动脉瘤和腹主动脉瘤之间存在免疫基因组差异吗？
J Card Surg. 2021 Apr;36(4):1520-1530. doi: 10.1111/jocs.15440. Epub 2021 Feb 18.
5
Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies.通过遗传性主动脉疾病研究洞察动脉瘤的发病机制。
Genes (Basel). 2021 Jan 27;12(2):183. doi: 10.3390/genes12020183.
6
Aneurysm-Specific miR-221 and miR-146a Participates in Human Thoracic and Abdominal Aortic Aneurysms.动脉瘤特异性miR-221和miR-146a参与人类胸主动脉瘤和腹主动脉瘤的发生。
Int J Mol Sci. 2017 Apr 20;18(4):875. doi: 10.3390/ijms18040875.
7
The genetics of aortopathies: Hereditary thoracic aortic aneurysms and dissections.先天性主动脉病变的遗传学：遗传性胸主动脉瘤和夹层。
Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):136-148. doi: 10.1002/ajmg.c.31771. Epub 2020 Feb 8.
8
Aetiology and management of hereditary aortopathy.遗传性主动脉病的病因和治疗。
Nat Rev Cardiol. 2017 Apr;14(4):197-208. doi: 10.1038/nrcardio.2016.211. Epub 2017 Jan 19.
9
Transforming growth factor-β and abdominal aortic aneurysms.转化生长因子-β与腹主动脉瘤。
Cardiovasc Pathol. 2013 Mar-Apr;22(2):126-32. doi: 10.1016/j.carpath.2012.07.005. Epub 2012 Sep 6.
10
Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin.胸主动脉瘤（TAA）的病理生理学：难道不是一个统一的主动脉吗？胚胎起源的作用。
Prog Cardiovasc Dis. 2013 Jul-Aug;56(1):68-73. doi: 10.1016/j.pcad.2013.04.002. Epub 2013 May 15.
引用本文的文献
1
Triglyceride-glucose index and risk of abdominal aortic aneurysm: a large-scale prospective cohort study.甘油三酯-葡萄糖指数与腹主动脉瘤风险：一项大规模前瞻性队列研究。
Diabetol Metab Syndr. 2025 Jun 19;17(1):232. doi: 10.1186/s13098-025-01778-6.
2
Distinct Patterns of Smooth Muscle Phenotypic Modulation in Thoracic and Abdominal Aortic Aneurysms.胸主动脉瘤和腹主动脉瘤中平滑肌表型调节的不同模式
J Cardiovasc Dev Dis. 2024 Nov 1;11(11):349. doi: 10.3390/jcdd11110349.
3
Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.胚系和体细胞嵌合遗传学对非综合征个体胸主动脉瘤的贡献。
J Am Heart Assoc. 2024 Jul 16;13(14):e033232. doi: 10.1161/JAHA.123.033232. Epub 2024 Jul 3.
4
An Eye into the Aorta: The Role of Extracellular Matrix Regulatory Genes and , from Their Previous Association with Brittle Cornea Syndrome to Their Novel Association with Aortic and Arterial Aneurysmal Diseases.从先前与脆骨-角膜综合征的关联到与主动脉和动脉瘤疾病的新关联：细胞外基质调节基因 和 的主动脉观察。
Int J Mol Sci. 2024 May 28;25(11):5848. doi: 10.3390/ijms25115848.
5
A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.在一个患有胸主动脉夹层和动脉导管未闭的家族中检测到一种有害的MYH11变异体。
Forensic Sci Med Pathol. 2024 Mar;20(1):212-218. doi: 10.1007/s12024-023-00650-1. Epub 2023 Jun 12.
6
Aortic Cellular Diversity and Quantitative Genome-Wide Association Study Trait Prioritization Through Single-Nuclear RNA Sequencing of the Aneurysmal Human Aorta.通过对动脉瘤患者主动脉的单细胞 RNA 测序进行主动脉细胞多样性和全基因组关联研究性状优先级排序。
Arterioscler Thromb Vasc Biol. 2022 Nov;42(11):1355-1374. doi: 10.1161/ATVBAHA.122.317953. Epub 2022 Sep 29.
7
Vascular Smooth Muscle Cells in Aortic Aneurysm: From Genetics to Mechanisms.主动脉瘤中的血管平滑肌细胞：从遗传学角度到机制。
J Am Heart Assoc. 2021 Dec 21;10(24):e023601. doi: 10.1161/JAHA.121.023601. Epub 2021 Nov 19.
8
Current progress of fluoroquinolones-increased risk of aortic aneurysm and dissection.氟喹诺酮类药物——主动脉夹层和动脉瘤风险增加的现状。
BMC Cardiovasc Disord. 2021 Sep 28;21(1):470. doi: 10.1186/s12872-021-02258-1.
9
Association between single nucleotide polymorphisms of tropoelastin gene and aortic dissection.原弹性蛋白基因单核苷酸多态性与主动脉夹层的关系。
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 May 28;46(5):458-466. doi: 10.11817/j.issn.1672-7347.2021.200624.
10
Postmortem detection of COL gene family variants in two aortic dissection cases.两例主动脉夹层病例中 COL 基因家族变异的死后检测。
Int J Legal Med. 2022 Jan;136(1):85-91. doi: 10.1007/s00414-021-02605-z. Epub 2021 Jun 14.
本文引用的文献
1
Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11.一名肌球蛋白重链11发生新突变的儿童出现烟雾病样脑血管疾病。
Neurology. 2018 Jan 16;90(3):136-138. doi: 10.1212/WNL.0000000000004828. Epub 2017 Dec 20.
2
Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm: A Meta-analysis.脂质和脂质药物靶点与腹主动脉瘤的遗传关联：一项荟萃分析。
JAMA Cardiol. 2018 Jan 1;3(1):26-33. doi: 10.1001/jamacardio.2017.4293.
3
Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.二叶式主动脉瓣的遗传基础：传统测序方法与高通量测序方法在研究和诊断中的贡献
Front Physiol. 2017 Aug 24;8:612. doi: 10.3389/fphys.2017.00612. eCollection 2017.
4
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: as an Important Contributor.在一个大型二叶式主动脉瓣相关胸主动脉瘤队列中的候选基因重测序：作为一个重要因素。
Front Physiol. 2017 Jun 13;8:400. doi: 10.3389/fphys.2017.00400. eCollection 2017.
5
The Pathogenic Transforming Growth Factor-β Overdrive Hypothesis in Aortic Aneurysms and Dissections: A Mirage?主动脉瘤和夹层中致病性转化生长因子-β 过度驱动假说：海市蜃楼？
Circ Res. 2017 May 26;120(11):1718-1720. doi: 10.1161/CIRCRESAHA.116.310371.
6
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.对基因多效性的系统评估确定了另外6个与冠状动脉疾病相关的基因座。
J Am Coll Cardiol. 2017 Feb 21;69(7):823-836. doi: 10.1016/j.jacc.2016.11.056.
7
Heart Disease and Stroke Statistics-2017 Update: A Report From the American Heart Association.《2017年心脏病和中风统计数据更新：美国心脏协会报告》
Circulation. 2017 Mar 7;135(10):e146-e603. doi: 10.1161/CIR.0000000000000485. Epub 2017 Jan 25.
8
Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling.马凡综合征小鼠模型中的主动脉病变并非由转化生长因子β信号改变介导。
J Am Heart Assoc. 2017 Jan 24;6(1):e004968. doi: 10.1161/JAHA.116.004968.
9
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.腹主动脉瘤全基因组关联研究的荟萃分析确定了四个新的疾病特异性风险位点。
Circ Res. 2017 Jan 20;120(2):341-353. doi: 10.1161/CIRCRESAHA.116.308765. Epub 2016 Nov 29.
10
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.X连锁双糖链蛋白聚糖基因的功能丧失突变会导致一种严重的综合征形式的胸主动脉瘤和主动脉夹层。
Genet Med. 2017 Apr;19(4):386-395. doi: 10.1038/gim.2016.126. Epub 2016 Sep 15.
Zotero 插件