Research progress on the relationship between genetic factors and cerebral small vessel disease

doi:10.11817/j.issn.1673-9248.2020.06.010

Abstract

Abstract:

The pathogenesis of cerebral small vessel disease (CSVD) is elusive and the mechanism is complex and diverse. Studies have found that sporadic CSVD has the similar genetic susceptibility as monogenic hereditary CSVD, and genetic factors play an important role in the incidence and development of CSVD. This article summarizes the correlation between six kinds of imaging manifestations and genetic factors in sporadic CSVD, as well as the role of genetic polymorphisms and RNA in CSVD.

Key words: Cerebral small vessel, Genetic factors, RNA

Meixiang Zhong, Lulu Xu, Yajuan Wang, Xueping Zheng. Research progress on the relationship between genetic factors and cerebral small vessel disease[J]. Chinese Journal of Cerebrovascular Diseases(Electronic Edition), 2020, 14(06): 366-369.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhnxgbzz.cma-cmc.com.cn/EN/10.11817/j.issn.1673-9248.2020.06.010

https://zhnxgbzz.cma-cmc.com.cn/EN/Y2020/V14/I06/366

References 35

1	Wardlaw JM, Smith EE, Biessels GJ. et al. Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration [J]. Lancet Neurol, 2013, 12(8): 822-838. URL
2	Choi KH, Kim HS, Park MS. et al. Overexpression of caveolin-1 attenuates brain edema by inhibiting tight junction degradation [J]. Oncotarget, 2016, 7(42): 67857-67867.
3	Traylor M, Tozer DJ, Croall ID. et al. Genetic variation in PLEKHG1 is associated with white matter hyperintensities (n=11,226) [J]. Neurology, 2019, 92(8): e749-e757.
4	Li M, Fu B, Dong W. et al. Correlations between plasma homocysteine and MTHFR gene polymorphism and white matter lesions [J]. Folia Neuropathol, 2018, 56(4): 301-307.
5	Hofer E, Cavalieri M, Bis JS, et al. White matter lesion progression: genome-wide search for genetic influences [J]. Stroke, 2015, 46(11): 3048-3057.
6	李静, 陈为安, 陈晓丽, 等. NOTCH3基因多态性与脑白质病变的关联研究 [J]. 中华急诊医学杂志, 2018, 27(9): 1030-1034.
7	石文磊, 韩红梅, 王国强, 等. 脑小血管病的遗传学研究进展 [J]. 中华神经医学杂志, 2017, 16(2): 204-208.
8	Luo X, Jiaerken Y, Yu X, et al. Associations between APOE genotype and cerebral small-vessel disease: a longitudinal study [J]. Oncotarget, 2017, 8(27): 44477-44489.
9	Paternoster L, Chen W, Sudlow CL, et al. Genetic determinants of white matter hyperintensities on brain scans: a systematic assessment of 19 candidate gene polymorphisms in 46 studies in 19,000 subjects [J]. Stroke, 2009, 40(6): 2020-2026.
10	韩建成, 高培毅, 林燕, 等. 缺血性脑卒中患者脑内微出血的磁共振成像研究 [J]. 中华老年心脑血管病杂志, 2008, 10(3): 181-184.
11	范刚峰, 张微微, 黄勇华, 等. 影响脑微出血严重程度的危险因素分析 [J]. 中国脑血管病杂志, 2013, 10(9): 472-476.
12	Maxwell SS, Jackson CA, Paternoster L, et al. Genetic associations with brain microbleeds: Systematic review and meta-analyses [J]. Neurology, 2011, 77(2): 158-167.
13	宋雨, 田淑芬. ApoE基因多态性与缺血性脑血管病患者脑微出血的相关性 [J]. 山东大学学报(医学版), 2019, 57(4): 47-51, 58.
14	Pola R, Flex A, Gaetani E, et al. Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter and 469 E/K polymorphism of the intercellular adhesion molecule-1 gene in Italian patients with history of ischemic stroke [J]. Stroke, 2003, 34(4): 881-885.
15	French CR, Seshadri S, Destefano AL, et al. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease [J]. J Clin Invest, 2014, 124(11): 4877-4881. URL
16	Bodzioch M, Orso E, Klucken J, et al.The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease [J]. Nat Genet, 1999, 22(4): 347-351.
17	薛偕华, 黄赛娥, 吴加勇, 等. ABCA1基因V825I多态性与腔隙性脑梗死合并高血压病的相关性研究 [J]. 中西医结合心脑血管病杂志, 2012, 10(2): 163-165.
18	Saleheen D, Khanum S, Haider SR, et al. A novel haplotype in ABCA1 gene effects plasma HDL-C concentration [J]. Int J Cardiol, 2007, 115(1): 7-13.
19	邓可, 肖志杰, 赵水平, 等. ABCA1基因多态性与腔隙性脑梗死的关系 [J]. 卒中与神经疾病, 2008, 15(1): 27-30.
20	Sugimoto K, Ishibashi T, Sawamura T, et al. LOX-1-MT1-MMP axis is crucial for RhoA and Rac1 activation induced by oxidized low-density lipoprotein in endothelial cells [J]. Cardiovasc Res, 2009, 84(1): 127-136.
21	刘旭, 朱瑞霞, 李瞿, 等. LOX-1基因多态性与腔隙性脑梗死的相关性研究 [J]. 解剖科学进展, 2016, 22(2): 130-132, 135.
22	Rempe RG, Hartz AMS, Bauer B, et al. Matrix metalloproteinases in the brain and blood-brain barrier: Versatile breakers and makers [J]. J Cereb Blood Flow Metab, 2016, 36(9): 1481-1507.
23	Kubo M, Hata J, Ninomiya T, et al. A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction [J]. Nat Genet, 2007, 39(2): 212-217.
24	程虹, 丁新生, 金庆文, 等. 南京地区汉族腔隙性脑梗死患者蛋白激酶Cη基因多态性的研究 [J]. 临床神经病学杂志, 2011, 24(2): 98-101.
25	李友, 廖锋, 崔理立, 等. 去整合素金属蛋白酶10基因启动子区多态性变化与腔隙性脑梗死发病风险的关系 [J]. 山东医药, 2014, 54(15): 4-7.
26	沈乃莹, 闫征, 何培英, 等. 人类白细胞抗原-DQA1*0301等位基因与腔隙性脑梗死的相关性研究 [J]. 中华老年心脑血管病杂志, 2000, 2(6): 391-394.
27	Duperron MG, Tzourio C, Sargurupremraj M, et al. Burden of dilated perivascular spaces, an emerging marker of cerebral small vessel disease, is highly heritable [J]. Stroke, 2018, 49(2): 282-287.
28	Yan H, Yang X , Zhao X, et al. Identification of genes and pathways related with cerebral small vessel disease based on a long non-coding RNA-mediated, competitive endogenous RNA network [J]. Exp Ther Med, 2018, 16(1): 121-126.
29	Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics [J]. Ann Neurol, 1992, 31(4): 391-398.
30	Di Stadio A, Pegoraro V, Giaretta L, et al. Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review [J]. Orphanet J Rare Dis, 2018, 13(1): 35.
31	Meseguer S, Panadero J, Navarro-Gonzalez C, et al. The MELAS mutation m.3243A＞G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs [J]. Biochim Biophys Acta Mol Basis Dis, 2018, 1864(9 Pt B): 3022-3037.
32	Prabhakar P, Chandra SR, Christopher R, et al. Circulating microRNAs as potential biomarkers for the identification of vascular dementia due to cerebral small vessel disease [J]. Age Ageing, 2017, 46(5): 861-864.
33	Birk S, Edvinsson L, Olesen J, et al. Analysis of the effects of phosphodiesterase type 3 and 4 inhibitors in cerebral arteries [J]. Eur J Pharmacol, 2004, 489(1-2): 93-100.
34	Yasmeen S, Kaur S, Mirza AH, et al. miRNA-27a-3p and miRNA-222-3p as novel modulators of phosphodiesterase 3a (PDE3A) in cerebral microvascular endothelial cells [J]. Mol Neurobiol, 2019, 56(8): 5304-5314.
35	Zhu X, Yin L, Theisen M, et al. Systemic mRNA therapy for the treatment of fabry disease: preclinical studies in wild-type mice, fabry mouse model, and wild-type non-human primates [J]. Am J Hum Genet, 2019, 104(4): 625-637.

[1]	Shujie Wei, Pinjing Hui, Yafang Ding, Bai Zhang, Yanhong Yan, Peng Zhou, Yabo Huang. Evaluation of cerebral hemodynamics in patients with unilateral internal carotid artery occlusion undergoing superficial temporal artery-middle cerebral artery bypass [J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(10): 1046-1055.
[2]	Huanyan Liu, Yang Hua, Lingyun Jia, Xinyu Zhao, Beibei Liu. Lumen structure and hemodynamic characteristics of occluded internal carotid artery [J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(08): 809-815.
[3]	Wen Yan, Xingwen Xie, Yubiao Gu, Ningbo Lei, Cheng Ma, Wenxia Yu, Yaxiong Gao, Lei Zhang. Research progress of microRNA and deep vein thrombosis after total knee arthroplasty [J]. Chinese Journal of Joint Surgery(Electronic Edition), 2023, 17(06): 842-846.
[4]	Zhe Yi, Zhixin Wang, Wei Chen, Weiya Qi, Jie Fang, Haifei Shi, Xia Zhao, Zhe Zhao, Feng Zhu, Wei Sheng, Yan Chen, Yuhao Zhang, Jin Zhu, Yaobin Yin, Yong Yang, Shanlin Chen, Bo Liu. Surgical operation specifications for robot-assisted percutaneous fixation of non-displaced acute scaphoid fracture [J]. Chinese Journal of Injury Repair and Wound Healing(Electronic Edition), 2023, 18(06): 464-468.
[5]	Weiqiang Ma, Binlin Ma, Zhongyu Wu, Ying Zhang. The role of microRNA in the progression of triple-negative breast cancer [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2024, 18(01): 111-114.
[6]	Zhibo Gu, lin Hao, Ming Lu, Jiangang Chen. Photodynamic nanocarriers combined with siP3H4 for precise targeting therapy in the treatment of bladder cancer: a pilot study [J]. Chinese Journal of Endourology(Electronic Edition), 2023, 17(06): 633-641.
[7]	Chufeng Wang, An Jiang. Molecular diagnosis of primary liver cancer [J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2023, 12(05): 499-503.
[8]	Boyang Fan, Ning Wang, Qian Zhang, Guiyu Wang. The progress in research of molecular mechanism of circRNAs regulating colorectal cancer metastasis [J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2023, 12(05): 426-430.
[9]	Baisheng Fu, Qinghu Li, Dawei Wang, Fulin Tao, Yonghui Wang. Reaming and debridement combined with unilateral external fixator for chronic infection after intramedullary nailing of long bone fractures [J]. Chinese Journal of Geriatric Orthopaedics and Rehabilitation(Electronic Edition), 2023, 09(05): 289-294.
[10]	Qiang Fu, Liyuan Qin, Quanbo Li. Analysis of serum miR-15a level and significance in patients with neuropathic pain [J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2023, 13(05): 293-298.
[11]	Xin Sun, Haibo Cheng, Weixing Shen. Curative effect mechanism of Xianlian Jiedu decoction in treatment of patients with stage Ⅲ colorectal cancer based on transcriptomics [J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2023, 13(05): 277-283.
[12]	Qiang Ma, Jun Li, Lijuan Gou. Expression levels of miR-21-3p and RUNX3 in severe acute pancreatitis and their predictive value to the progression of the disease [J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2023, 13(05): 337-341.
[13]	Yuan Yuan, Liangping Zhao, Zhihui Liu, Liping Zhang, Limei Tan, Mengqin Xia. Relationship between miR-25-3p and PTEN expression and pathological parameters in endometrial cancer [J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(9): 1016-1020.
[14]	Guanglin Wang, Miao Yu, Zesong Meng, Xuhua Hu, Feifei Wang, Baokun Li, Longfei Cao, Jun Feng, Juan Zhang, Guiying Wang. Risk factors and remedial measures for failure of anal preservation caused by inadequate distal resection margin in laparoscopic surgery for low rectal cancer [J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(05): 529-534.
[15]	Meijuan Yan, Lihui Shao. Correlation between lipoprotein (a) and arteriosclerotic cerebral small vessel disease in elderly population without diabetes, hyperlipidemia and hypertension [J]. Chinese Journal of Cerebrovascular Diseases(Electronic Edition), 2023, 17(05): 458-463.

Please choose a citation manager

Content to export