Suppr超能文献

凝血因子V莱顿突变不是急性冠状动脉综合征的诱发因素。

Factor V Leiden mutation is not a predisposing factor for acute coronary syndromes.

作者信息

Himabindu G, Rajasekhar D, Latheef K, Sarma P V G K, Vanajakshamma V, Chaudhury Abhijit, Bitla Aparna R

机构信息

Department of Cardiology, Sri Venkateswara Institute of Medical Sciences & University, Andhra Pradesh, India.

出版信息

Indian Heart J. 2012 Nov-Dec;64(6):570-5. doi: 10.1016/j.ihj.2012.07.006. Epub 2012 Jul 27.

Abstract

BACKGROUND

The prevalence of Coronary artery disease (CAD) in India has increased considerably over the past few years and could become the number one killer disease if interventions are not done. Factor V Leiden (FVL) mutation and FII G20210A polymorphism are two recently described genetic factors with a propensity towards venous thrombosis. This warrants the investigations for thrombophilia in myocardial infarction patients in India.

METHODS

The study cohort consisted of 51 patients aged below 50 years presenting with acute coronary syndromes. In both patient group and normal individuals the major risk factors Protein C deficiency, Protein S deficiency, anticardiolipin antibodies, Fibrinogen and Lipoprotein [a] were studied. Factor V Leiden (FVL) G1691A mutation in both control and patient group was looked by using Polymerase chain reaction (PCR) followed by sequencing of the PCR products.

RESULTS

Our results indicated significantly higher levels of anticardiolipin antibodies and fibrinogen in the patients and absence of FVL (G1691A) mutation in our study cohort. One of the patients (H5) showed insertion of an extra A nucleotide in exon 10 of the Factor V gene resulting in frame shift mutation in this patient.

CONCLUSION

The results of present study showed absence of FVL mutation in our population. However, there is a need to confirm the above findings on patients from different populations from different parts of the country. The insertion of an extra A in exon 10 in the patient needs to be ascertained to confirm that it is one of its kinds or is prevalent in the population.

摘要

背景

在过去几年中,印度冠状动脉疾病(CAD)的患病率大幅上升,如果不采取干预措施,它可能会成为头号致命疾病。凝血因子V莱顿(FVL)突变和凝血因子II G20210A多态性是最近描述的两种易导致静脉血栓形成的遗传因素。这使得对印度心肌梗死患者的血栓形成倾向进行调查很有必要。

方法

研究队列由51名年龄在50岁以下的急性冠状动脉综合征患者组成。在患者组和正常个体中,研究了主要危险因素,包括蛋白C缺乏、蛋白S缺乏、抗心磷脂抗体、纤维蛋白原和脂蛋白[a]。通过聚合酶链反应(PCR)检测对照组和患者组中的凝血因子V莱顿(FVL)G1691A突变,随后对PCR产物进行测序。

结果

我们的结果表明,患者体内抗心磷脂抗体和纤维蛋白原水平显著升高,并且在我们的研究队列中不存在FVL(G1691A)突变。其中一名患者(H5)在凝血因子V基因的外显子10中插入了一个额外的A核苷酸,导致该患者出现移码突变。

结论

本研究结果显示我们的人群中不存在FVL突变。然而,有必要在来自该国不同地区的不同人群中证实上述发现。需要确定患者外显子10中额外插入的A,以确认它是独一无二的还是在人群中普遍存在。

相似文献

1
Factor V Leiden mutation is not a predisposing factor for acute coronary syndromes.
Indian Heart J. 2012 Nov-Dec;64(6):570-5. doi: 10.1016/j.ihj.2012.07.006. Epub 2012 Jul 27.
3
Prevalence of factor V Leiden (G1691A) and prothrombin (G20210A) among Kurdish population from Western Iran.
J Thromb Thrombolysis. 2008 Jun;25(3):280-3. doi: 10.1007/s11239-007-0052-6. Epub 2007 Aug 14.
7
Thrombotic gene polymorphisms and postoperative outcome after coronary artery bypass graft surgery.
J Cardiothorac Surg. 2011 Sep 28;6:120. doi: 10.1186/1749-8090-6-120.

引用本文的文献

2
Factor V Leiden but not the factor II 20210G>A mutation is a risk factor for premature coronary artery disease: a case-control study in Iran.
Res Pract Thromb Haemost. 2023 Jan 11;7(1):100048. doi: 10.1016/j.rpth.2023.100048. eCollection 2023 Jan.
3
Novel single nucleotide mutations in exon-10 of human coagulation Factor V gene in patients with pulmonary thromboembolism.
J Cardiovasc Thorac Res. 2020;12(1):10-14. doi: 10.34172/jcvtr.2020.02. Epub 2020 Jan 28.
4
Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease.
Clin Appl Thromb Hemost. 2018 Mar;24(2):330-337. doi: 10.1177/1076029617744320. Epub 2017 Nov 27.
5
Myocardial Infarction in Neonates: A Review of an Entity with Significant Morbidity and Mortality.
Pediatr Cardiol. 2017 Mar;38(3):427-441. doi: 10.1007/s00246-016-1556-7. Epub 2017 Feb 25.
7
Vascular Genetic Variants and Ischemic Stroke Susceptibility in Albanians from the Republic of Macedonia.
Open Access Maced J Med Sci. 2016 Dec 15;4(4):556-564. doi: 10.3889/oamjms.2016.114. Epub 2016 Oct 1.

本文引用的文献

2
Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis.
Am J Reprod Immunol. 2008 Nov;60(5):426-31. doi: 10.1111/j.1600-0897.2008.00640.x.
3
Advances in understanding pathogenic mechanisms of thrombophilic disorders.
Blood. 2008 Jul 1;112(1):19-27. doi: 10.1182/blood-2008-01-077909.
4
Antiphospholipid antibodies in young myocardial infarction patients.
Indian J Biochem Biophys. 2007 Dec;44(6):481-4.
5
Combined effects of thrombosis pathway gene variants predict cardiovascular events.
PLoS Genet. 2007 Jul;3(7):e120. doi: 10.1371/journal.pgen.0030120. Epub 2007 Jun 7.
6
Primer-engineered multiplex PCR-RFLP for detection of MTHFR C677T, prothrombin G20210A and factor V Leiden mutations.
Exp Mol Pathol. 2007 Aug;83(1):1-3. doi: 10.1016/j.yexmp.2006.12.006. Epub 2006 Dec 30.
10
Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system.
Ann Intern Med. 2003 Jan 21;138(2):128-34. doi: 10.7326/0003-4819-138-2-200301210-00014.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验