Chinese Journal of Stroke ›› 2017, Vol. 12 ›› Issue (06): 559-565.DOI: 10.3969/j.issn.1673-5765.2017.06.018
Previous Articles Next Articles
Received:
2016-12-20
Online:
2017-06-20
Published:
2017-06-20
索阅,李伟,王拥军
通讯作者:
王拥军 yongjunwang1962@gmail.com
基金资助:
重大疾病的防控策略、诊疗规范及效果评价研究(2015BAI12B00)
SUO Yue, LI Wei, WANG Yong-Jun. Research Progress of COL4A1/A2 Mutations in Hemorrhagic Cerebral Vascular Disease and Hemorrhagic Transformation[J]. Chinese Journal of Stroke, 2017, 12(06): 559-565.
索阅,李伟,王拥军. COL4A1/A2 基因变异与出血性脑血管病及梗死后出血转化研究进展[J]. 中国卒中杂志, 2017, 12(06): 559-565.
1 Tsai CF,Thomas B,Sudlow CL. Epidemiologyof stroke and its subtypes in Chinese vs whitepopulations:a systematic review[J]. Neurology,2013,81:264-272.2 Feigin VL,Forouzanfar MH,Krishnamurthi R,etal. Global and regional burden of stroke during 1990-2010:findings from the Global Burden of DiseaseStudy 2010[J]. Lancet,2014,383:245-254.3 Poon MT,Fonville AF,Al-Shahi Salman R. Longtermprognosis after intracerebral haemorrhage:systematic review and meta-analysis[J]. J NeurolNeurosurg Psychiatry,2014,85:660-667.4 Connolly ES Jr,Rabinstein AA,Carhuapoma JR,etal. Guidelines for the management of aneurysmalsubarachnoid hemorrhage:a guideline for healthcareprofessionals from the American Heart Association/American Stroke Association[J]. Stroke,2012,43:1711-1737.5 眭维国,李丽萍,车文体,等. 人类遗传疾病中常见变异和罕见变异的研究策略[J]. 国家检验医学杂志,2011,32:1847-1850.6 Wang WY,Barratt BJ,Clayton DG,et al. Genomewideassociation studies:theoretical and practicalconcerns[J]. Nat Rev Genet,2005,6:109-118.7 Boute N,Exposito JY,Boury-Esnault N,et al. TypeⅣ collagen in sponges,the missing link in basementmembrane ubiquity[J]. Biol Cell,1996,88:37-44.8 Fidler AL,Vanacore RM,Chetyrkin SV,et al. A unique covalent bond in basement membrane is aprimordial innovation for tissue evolution[J]. ProcNatl Acad Sci USA,2014,111:331-336.9 Timpl R. Structure and biological activity of basementmembrane proteins[J]. Eur J Biochem,1989,180:487-502.10 Pollner R,Fischer G,Pöschl E,et al. Regulationof divergent transcription of the genes coding forbasement membrane type Ⅳ collagen[J]. Ann N YAcad Sci,1990,580:44-54.11 Fischer G,Schmidt C,Opitz J,et al. Identificationof a novel sequence element in the common promoterregion of human collagen type Ⅳ genes,involved inthe regulation of divergent transcription[J]. Biochem J,1993,292:687-695.12 Haniel A,Welge-Lüssen U,Kühn K,et al.Identification and characterization of a noveltranscriptional silencer in the human collagen typeⅣ gene COL4A2[J]. J Biol Chem,1995,270:11 209-11 215.13 Pollner R,Schmidt C,Fischer G,et al. Cooperativeand competitive interactions of regulatory elementsare involved in the control of divergent transcriptionof human Col4A1 and Col4A2 genes[J]. FEBS Lett,1997,405:31-36.14 Kuo DS,Labelle-Dumais C,Gould DB. COL4A1and COL4A2 mutations and disease:insights intopathogenic mechanisms and potential therapeutictargets[J]. Hum Mol Genet,2012,21:R97-R110.15 Weng YC,Sonni A,Labelle-Dumais C,et al.COL4A1 mutations in patients with sporadic lateonsetintracerebral hemorrhage[J]. Ann Neurol,2012,71:470-477.16 Lemmens R,Maugeri A,Niessen HW,et al. NovelCOL4A1 mutations cause cerebral small vesseldisease by haploinsufficiency[J]. Hum Mol Genet,2013,22:391-397.17 Gunda B,Mine M,Kovács T,et al. COL4A2mutation causing adult onset recurrent intracerebralhemorrhage and leukoencephalopathy[J]. J Neurol,2014,261:500-503.18 Devan WJ,Falcone GJ,Anderson CD,et al.Heritability estimates identify a substantial geneticcontribution to risk and outcome of intracerebralhemorrhage[J]. Stroke,2013,44:1578-1583.19 Yang J,Benyamin B,McEvoy BP,et al. CommonSNPs explain a large proportion of the heritability forhuman height[J]. Nat Genet,2010,42:565-569.20 Yang J,Lee SH,Goddard ME,et al. GCTA:a toolfor genome-wide complex trait analysis[J]. Am J HumGenet,2011,88:76-82.21 Vahedi K,Kubis N,Boukobza M,et al. COL4A1mutation in a patient with sporadic,recurrentintracerebral hemorrhage[J]. Stroke,2007,38:1461-1464.22 Jeanne M,Labelle-Dumais C,Jorgensen J,et al.COL4A2 mutations impair COL4A1 and COL4A2secretion and cause hemorrhagic stroke[J]. Am J HumGenet,2012,90:91-101.23 Murray LS,Lu Y,Taggart A. Chemical chaperonetreatment reduces intracellular accumulation ofmutant collagen Ⅳ and ameliorates the cellularphenotype of a COL4A2 mutation that causeshaemorrhagic stroke[J]. Hum Mol Genet,2014,23:283-292.24 Gould DB,Phalan FC,van Mil SE,et al. Role ofCOL4A1 in small-vessel disease and hemorrhagicstroke[J]. N Engl J Med,2006,354:1489-1496.25 Rannikmäe K,Davies G,Thomson PA,et al.Common variation in COL4A1/COL4A2 is associatedwith sporadic cerebral small vessel disease[J].Neurology,2015,84:918-926.26 Jeanne M,Jorgensen J,Gould DB. Molecular andgenetic analysis of collagen type Ⅳ mutant mousemodels of spontaneous intracerebral hemorrhageidentify mechanisms for stroke prevention[J].Circulation,2015,131:1555-1565.27 Schöller K,Trinkl A,Klopotowski M,et al.Characterization of microvascular basal laminadamage and blood-brain barrier dysfunction followingsubarachnoid hemorrhage in rats[J]. Brain Res,2007,1142:237-246.28 Ruigrok YM,Rinkel GJ,van’t Slot R,et al. Evidencein favor of the contribution of genes involved in themaintenance of the extracellular matrix of the arterialwall to the development of intracranial aneurysms[J].Hum Mol Genet,2006,15:3361-3368.29 Ruigrok YM,Rinkel GJ,Wijmenga C. The versicangene and the risk of intracranial aneurysms[J]. Stroke,2006,37:2372-2374.30 Rødahl E,Knappskog PM,Majewski J,et al.Variants of anterior segment dysgenesis and cerebralinvolvement in a large family with a novel COL4A1mutation[J]. Am J Ophthalmol,2013,155:946-953.31 Mohan D,Munteanu V,Coman T,et al. Geneticfactors involves in intracranial aneurysms —actualities[J]. J Med Life,2015,8:336-341.32 Skirgaudas M,Awad IA,Kim J,et al. Expression of angiogenesis factors and selected vascular wallmatrix proteins in intracranial saccular aneurysms[J].Neurosurgery,1996,39:537-545; discussion 545-547.33 Wang CX,Shuaib A. Critical role of microvasculaturebasal lamina in ischemic brain injury[J]. ProgNeurobiol,2007,83:140-148.34 Lindley RI,Wardlaw JM,Sandercock PA,etal. Frequency and risk factors for spontaneoushemorrhagic transformation of cerebral infarction[J].J Stroke Cerebrovasc Dis,2004,13:235-246.35 Wang X,Tsuji K,Lee SR,et al. Mechanisms ofhemorrhagic transformation after tissue plasminogenactivator reperfusion therapy for ischemic stroke[J].Stroke,2004,35:2726-2730. |
[1] | ZHAO Xin, XUE Wei, ZHU Xinli, JING Dongqing, HONG Fan, GUO Xiao, LIU Junling. Paroxysmal Nocturnal Hemoglobinuria with Posterior Reversible Encephalopathy Syndrome: A Case Report [J]. Chinese Journal of Stroke, 2024, 19(6): 699-705. |
[2] | WANG Chao, HU Yongzhen, LI Xuesong. Predictive Research Progress on Shunt-Dependent Hydrocephalus after Aneurysmal Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2024, 19(1): 87-93. |
[3] | CHENG Xin, ZHONG Weiyi, DONG Yi, LI Qi, NI Wei, GU Hongqiu, GU Yuxiang, DONG Qiang, the Writing Committee of Chinese Stroke Association Guidelines for Clinical Management of Cerebrovascular Diseases. Chinese Stroke Association Guidelines for Clinical Management of Cerebrovascular Diseases (Second Edition) (Excerpt)——Chapter Six Clinical Management of Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2023, 18(9): 1024-1029. |
[4] | LIU Yang, FENG Guang. Research Progress of Target Temperature Management in Patients with Poor Grade Aneurysmal Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2023, 18(11): 1307-1314. |
[5] | HUO Jie, CHEN Biyao, ZHANG Chuji, XU Bin, JI Ruijun. Study on Correlation between Imaging Changes and Consciousness Disturbance and Cerebrocardiac Syndrome Secondary to Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2023, 18(07): 811-816. |
[6] |
HE Xin, ZHAO Donghong, YAN Ying, FAN Yanzhu.
Effect Analysis of a New Model of Posture Management after Lumbar Puncture in Subarachnoid Hemorrhage Patients
[J]. Chinese Journal of Stroke, 2023, 18(05): 572-576.
|
[7] | LIU Jianwei, ZHEN Yong, SONG Bingwei, CHENG Jiao, GENG Ping, HU Jianbing. Etiology and Antibacterial Drug Resistance Analysis of Post-microsurgery Pneumonia in Patients with Poor-grade Aneurysmal Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2023, 18(01): 83-89. |
[8] | CHENG Shi, LI Jing, GUO Junping, HU Aixiang, YU Xinwei, HAN Wei, LIANG Ying, ZHANG Yuewei, JI Ruijun. Clinical Characteristics and Risk Factors of Infection in Patients with Acute Stroke during Hospitalization [J]. Chinese Journal of Stroke, 2022, 17(10): 1065-1070. |
[9] | WU Qian, TAO Liyuan, CHEN Siqi, ZHONG Lianmei, LIU Liping, MI Donghua. The Impact of Blood Glucose Fluctuation on Delayed Cerebral Ischemia and 30-day Mortality in Aneurysm Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2022, 17(08): 845-850. |
[10] | GUO Jia-Huan, ZHAO Xing-Quan. Discussions on Pathophysiological Mechanism of Delayed Cerebral Ischemia after Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2021, 16(07): 746-751. |
[11] | ZHANG Yong-Zhi, LIU Bin-Bing, TIAN Yang, SHI Huai-Zhang. Progress of Mitophagy in Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2021, 16(07): 752-756. |
[12] | WANG Yu-Mei, TANG Si-Wei, ZHANG Shao-Lan, WU Lei, SHI Guang-Zhi. The Effect of Oxyhemoglobin in Delayed Cerebral Vasospasm after Subarachnoid Hemorrhage in Rats [J]. Chinese Journal of Stroke, 2021, 16(05): 457-462. |
[13] | ZHOU Xue-Jiao, CHEN Qing-Qing, SUN Jin-Ju, JI Rui-Jun. Analysis of Risk Factors of Lower Extremity Deep Venous Thrombosis in Patients with Subarachnoid Hemor-rhage [J]. Chinese Journal of Stroke, 2021, 16(02): 163-167. |
[14] | YAN Jing, LI Zhao-Xia, LIU Li-Juan, ZHANG Lei, PAN Hua, ZHAO Xing-Quan. The Diagnosis Value of Event-Related Potentials for Cognitive Impairment after Aneurysmal Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2021, 16(01): 58-63. |
[15] | LIAO Yi-Fei,ZHANG Hui, ZOU Liang-Yu. The Role of Neuroinflammation in Early Brain Injury after Aneurysmal Subarachnoid Hemorrhage [J]. Chinese Journal of Stroke, 2021, 16(01): 92-96. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||