Himabindu G, Rajasekhar D, Latheef K, Sarma P V G K, Vanajakshamma V, Chaudhury Abhijit, Bitla Aparna R
Department of Cardiology, Sri Venkateswara Institute of Medical Sciences & University, Andhra Pradesh, India.
Indian Heart J. 2012 Nov-Dec;64(6):570-5. doi: 10.1016/j.ihj.2012.07.006. Epub 2012 Jul 27.
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.
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.
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.
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.
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。
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。
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。
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。