基因多态性与静脉血栓相关性的研究进展

摘要
图/表
参考文献(53)
相关文章 (14)

全文: PDF (550 KB) HTML (1 KB)
输出: BibTeX | EndNote (RIS)

摘要静脉血栓栓塞症是一种多基因遗传性疾病，其基因的相关性越来越成为学术界研究的热点。目前关于ABO、F2、G20210A、PAI-1的基因多态性与静脉血栓栓塞症的关系在国内外均有报道，本文就其相关性研究进行综述，为临床预防、诊断及疾病治疗提供新靶点和新思路。

	服务

	把本文推荐给朋友
	加入我的书架
	加入引用管理器
	E-mail Alert
	RSS
	作者相关文章
	王璐1
	2 葛卫红1 徐航1

关键词 ：静脉血栓栓塞症, 基因多态性, 相关性

Abstract：Venous thromboembolism is polygenetic hereditary diseases, and the correlation of its genes has become a famous in academic research. This summary presents a review of literatures reported at home and abroad between ABO, F2, G20210A, PAI-1 in system gene polymorphism and venous thrombosis. This paper reviews the relevant research and provides new targets and new ideas for clinical prevention, diagnosis and disease treatment.

Key words： Venous thrombosis Gene polymorphism Correlation

基金资助:江苏省药学会-Shire生物药学基金科研项目（S201606）；
江苏省南京市卫生计生委十三五南京市卫生青年人才培养工程（QRX17060）。

通讯作者: 徐航（1978-），女，硕士，副主任药师；研究方向：临床药学。

作者简介: 王璐（1994-），女，中国药科大学基础医学与临床药学学院2016级药学（临床药学方向）专业在读硕士研究生；研究方向：临床药学。

引用本文:

王璐1,2 葛卫红1 徐航1. 基因多态性与静脉血栓相关性的研究进展[J]. 中国医药导报, 2018, 15(9): 31-35.
WANG Lu1,2 GE Weihong1 XU Hang1. Research progress on the correlation between gene polymorphism and venous thrombosis. 中国医药导报, 2018, 15(9): 31-35.

链接本文:

http://www.yiyaodaobao.com.cn/CN/ 或 http://www.yiyaodaobao.com.cn/CN/Y2018/V15/I9/31

[1] Beye A，Pindur G. Clinical significance of factor V leiden and prothrombin G20210A-mutations in cerebral venous thrombosis - comparison with arterial ischemic stroke [J]. Clin Hemorheol Microcirc，2017，67（3/4）：261-266.
[2] Jordan FL，Nandorff A. The familial tendency in thromboembolic disease [J]. Acta Med Scand，2010，156（4）：267-275.
[3] Canero A，Parmeggiani D，Avenia N，et al. Thromboembolic tendency（TE）in IBD（inflammatory bowel disease）patients [J]. Ann Ital Chir，2012，83（4）：313-317.
[4] Griffin JH，Evatt B，Zimmerman TS，et al. Deficiency of protein C in congenital thrombotic disease [J]. J Clin Invest，1981，68（5）：1370-1373.
[5] Schwarz HP，Fischer M，Hopmeier P，et al. Plasma protein S deficiency in familial thrombotic disease [J]. Blood，1984， 64（6）：1297-300.
[6] Shukla A，Shukla S，Zhou X，et al. Association of ABO blood type A and stage IV disease with venous thromboembolism in pancreatic cancer patients [J]. J Clin Oncol，2010， 28（15 suppl）：e14529-e14529.
[7] Wautrecht JC，Galle C，Motte S，et al. The role of ABO blood groups in the incidence of deep vein thrombosis [J]. Throm Haemost，1998，79（3）：688-689.
[8] Nordstr?觟m M，Lindblad B，Bergqvist D，et al. A prospective study of the incidence of deep-vein thrombosis within a defined urban population [J]. J Int Med，2010，232（2）：155-160.
[9] Heit JA，Armasu SM，Asmann YW，et al. A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. [J]. J Thromb Haemost，2012，10（8）：1521-1531.
[10] Bruzelius M，Strawbridge RJ，Trégouët DA，et al. Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism [J]. Thromb Res，2014，134（2）：426-432.
[11] Lin JS，Shen MC，Tsay W. The mutation at position 20210 in the 3′-untranslated region of the prothrombin gene is extremely rare in Taiwanese Chinese patients with venous thrombophilia [J]. Thromb Haemost，1998，80（2）：343.
[12] Silver RM，Saade GR，Thorsten V，et al. Factor V Leiden，prothrombin G20210A，and methylene tetrahydrofolate reductase mutations and stillbirth：the Stillbirth Collaborative Research Network [J]. Am J Obstet Gynecol，2016，215（4）：468.
[13] Attia FM，Mikhailidis DP，Reffat SA. Prothrombin Gene G20210A Mutation in Acute Deep Venous Thrombosis Patients with Poor Response to Warfarin Therapy [J]. Open Cardiovascular Medicine Journal，2009，3（1）：147-151.
[14] 赵永娟，赵凤芹，谭平，等.凝血因子Ⅴ Leiden突变检测对肺血栓栓塞症的预测价值[J].中国老年学，2014， 34（17）：4747-4748.
[15] Marchiori A，Mosena L，Prins MH，et al. The risk of recurrent venous thromboembolism among heterozygous carriers of factor Ⅴ Leiden or prothrombin G20210A mutation. A systematic review of prospective studies [J]. Haematologica，2007，92（8）：1107.
[16] 褚国芳，赵凤芹，石少敏.临床高危因素及凝血酶原基因G20210A突变和FⅤL突变对肺栓塞的诊断预测价值[J].中国老年学，2016，36（5）：1136-1139.
[17] 胡雪梅，艾力曼·马合木提，夏玉宁，等.维吾尔族静脉血栓栓塞症与凝血酶原G20210A和凝血因子Ⅴ Leiden突变的相关性研究[J].新疆医科大学学报，2015，38（1）：38-43.
[18] Dahlb?覿ck B. Physiological anticoagulation. Resistance to activated protein C and venous thromboembolism [J]. J Clin Invest，1994，94（3）：923-927.
[19] Smith NL，Hindorff LA，Heckbert SR，et al. Association of genetic variations with non fatal venous thrombosis in postmenopausal women [J]. JAMA，2007，297（5）：489-498.
[20] Bezemer ID，Bare LA，Arellano AR，et al. Updated analysis of gene variants associated with deep vein thrombosis [J]. JAMAs，2010，303（5）：421-422.
[21] Bertina RM，Koeleman BP，Koster T，et al. Mutation in blood coagulation factor V associated with resistance to activated protein C [J]. Nature，1994，369（6475）：64-67.
[22] Androulakis NE，Tzenakis N，Nioti E，et al. Activated Protein C-Resistance Determination and Vascular Access Thrombosis in Populations with High Prevalence of Factor V Leiden [J]. Nephron，2015，131（1）：5-10.
[23] Bourdeaux C，Brunati A，Janssen M，et al. Liver retransplantation in children. A 21-year single-center experience [J]. Transpl Int，2009，22（4）：416-422.
[24] Ahmad-Nejad P，Dempfle CE，Weiss C，et al. The G534E-polymorphism of the gene encoding the Factor Ⅶ-activating protease is a risk factor for venous thrombosis and recurrent events [J]. Thromb Res，2012，130（3）：441-444.
[25] Jun ZJ，Ping T，Lei Y，et al. Prevalence of factor V Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism [J]. Clin Lab Haemat，2006，28（2）：111-116.
[26] 张佳，赵凤芹，赵建军，等.FVLeiden和FIIG20210A与中国人群肺血栓栓塞症的相关性[J].中国免疫学杂志，2014，30（3）：396-399.
[27] Eichinger S，Schönauer V，Weltermann A，et al. Thrombin-activatable fibrinolysis inhibitor and the risk for recurrent venous thromboembolism [J]. Blood，2004，103（10）：3773-3776.
[28] Brandt JT. Plasminogen and tissue-type plasminogen activator deficiency as risk factors for thromboembolic disease [J]. Arch Pathol Lab Med，2002，126（11）：1376-1381.
[29] Vergouwen MD，Frijns CJ，Roos YB，et al. Plasminogen activator inhibitor-1 4G allele in the 4G/5G promoter polymorphism increases the occurrence of cerebral ischemia after aneurysmal subarachnoid hemorrhage [J]. Stroke，2004，35（6）：1280-1283.
[30] Yamada N，Wada H，Nakase T，et al. Hemostatic abnormalities in patients with pulmonary embolism compared with that in deep vein thrombosis [J]. Blood Coagul Fibrinolysis，1995，6（7）：627-633.
[31] Warde-Farley D，Donaldson SL，Comes O，et al. The GeneMANIA，prediction，server：biological，network，integration，for gene，prioritization，and predicting，gene，function [J]. Nucleic Acids Res，2010，38：W214-W220.
[32] 马涵英，赵铁夫，雒芳芳，等.肺动脉血栓栓塞与组织型纤溶酶原激活剂及纤溶酶原激活物抑制剂的关系[J].中华老年心脑血管病杂志，2010，12（11）：967-969.
[33] 古丽尼格尔·吾布力，艾力曼·马合木提，古丽米热·吐尼牙孜，等.纤溶酶原激活物抑制剂-1活性及其基因多态性与新疆维吾尔族静脉血栓栓塞症的相关性[J].临床心血管病杂志，2014，30（7）：576-582.
[34] Colucci M，Binetti BM，Tripodi A，et al. Hyperprothrombinemia associated with prothrombin G20210A mutation inhibits plasma fibrinolysis through a TAFI-mediated mechanism [J]. Blood，2004，103（6）：2157-2161.
[35] Akar N，Yilmaz E，Akar E，et al. Effect of Plasminogen Activator Inhibitor-1 4G/5G Polymorphism in Turkish Deep Vein Thrombotic Patients with and without FⅤ1691 G-A [J]. Thrombosis Research，2000，97（4）：227-230.
[36] 陈永利，张敬霞，王佩显，等.下肢深静脉血栓形成患者PAI1启动子4G/5G基因多态性与PAI1血浆含量的关联性研究[J].中华医学遗传学杂志，2005，22（6）：624-627.
[37] De Mattia E，Toffoli G. C677T and A1298C MTHFR pol′ymorphisms，a challenge for antifolate and fluoropyrimidine-based therapy personalisation [J]. Eur J Cancer，2009，45（8）：1333-1351.
[38] 赵丽，焦运，杨安宁，等.miR-124及其启动子区DNA甲基化在同型半胱氨酸致动脉粥样硬化中的作用[J].生理学报，2015，67（2）：207-213.
[39] 郭辰虹，郭琼行，龚瑶琴，等.亚甲基四氢叶酸还原酶基因C677T突变与山东汉族人群深静脉血栓形成的相关性[J].中华医学遗传学杂志，2002，19（4）：295-297.
[40] Habib G，Zahra S，Shahram S，et al. Role of Hyperhomocysteinemia and Methylene Tetrahydrofolate Reductase C677T Polymorphism in Idiopathic Portal Vein Thrombosis [J]. Vasc Specialist Int，2016，32（1）：6-10.
[41] Ammouri W，Tazi ZM，Harmouche H，et al. Venous thr′omboembolism and hyperhomocysteinemia as first manifestation of pernicious anemia：a case series [J]. J Med Case Rep，2017，11（1）：250.
[42] Zhang P，Gao X，Zhang Y，et al. Association between MTHFR C677T polymorphism and venous thromboembolism risk in the Chinese population：a meta-analysis of 24 case-controlled studies [J]. Angiology，2015，66（5）：422.
[43] Daugelaite K，Serapinas D. The importance of MTHFR gene mutation detection in patient with recurrent miscarriages [J]. Genetika，2015，47（2）：609-616.
[44] Anil S，Liu KD，Joseph W，et al. Association of common genetic variation in the protein C pathway genes with clinical outcomes in acute respiratory distress syndrome [J]. Critical Care，2016，20（1）：151.
[45] Van ZN，Milford EM，Diab S，et al. Activation of the protein C pathway and endothelial glycocalyx shedding is associated with coagulopathy in an ovine model of trauma and hemorrhage [J]. J Trauma Acute Care Surg，2016，81（4）：674-684.
[46] Wildhagen KC，Lutgens E，Loubele ST，et al. The structure-function relationship of activated protein C [J]. Thromb Haemost，2011，106（6）：1034-1045.
[47] 孙新六，阴冠程.DHPLC和PCR-RFLP技术筛查下肢静脉血栓患者EPCR多态基因[J].泰山医学院学报，2015， 36（2）：137-139.
[48] Yin G，Jin X，Ming H，et al. Endothelial cell protein C receptor gene 6936A/G polymorphism is associated with venous thromboembolism [J]. Exp Ther Med，2012，3（6）：989-992.
[49] Desch KC. Dissecting the genetic determinants of hemostasis and thrombosis [J]. Curr Opinion Hemat，2015，22（5）：428-436.
[50] Huang J，Huffman JE，Yamakuchi M，et al. Gen ome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2 [J]. Arterioscler Thromb Vasc Biol，2014，34（5）：1093-1101.
[51] Morange PE，Oudot-Mellakh T，Cohen W，et al. KNG1 Ile581Thr and susceptibility to venous thrombosis [J]. Blood，2011，117（13）：3692.
[52] Raffler J，Friedrich N，Arnold M，et al. Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality [J]. Plos Genetics，2015，11（9）：e1005487.
[53] Yoshimuta T，Yokoyama H，Okajima T，et al. Impact of Elevated D-Dimer on Diagnosis of Acute Aortic Dissection With Isolated Neurological Symptoms in Ischemic Stroke [J]. Circ J，2015，79（8）：1841-1845.