Department of Medical Genetics, Ataturk University Medical Faculty, 25240, Erzurum, Turkey.
Department of Neurology, Ataturk University Medical Faculty, Erzurum, Turkey.
Neuromolecular Med. 2016 Jun;18(2):170-6. doi: 10.1007/s12017-016-8386-x. Epub 2016 Mar 7.
An important type of arterial thrombosis, ischemic stroke is associated with increased mortality risk, severe disability and life quality impairment. In this study, we analyzed mean platelet volume, platelet count values and genetic thrombophilia markers of patients who have ischemic stroke history and searched the relationship with genetic predisposition of ischemic strokes and platelet parameters. A retrospective, clinical trial was performed by reviewing the ischemic stroke history (except cryptogenic events) of 599 patients and 100 controls. The results of the genetic thrombophilia panel were used to classify the study group and control group into low and high risk for thrombophilia groups. The high-risk group included patients homozygous/heterozygous for Factor II g.20210G>A or Factor V Leiden mutations with/without any other polymorphism. The low-risk group included patients heterozygous or homozygous for MTHFR (C677T, A1298C), PAI-1, β-fibrinogen, Factor XIIIA (V34L) and glycoprotein IIIa (L33P) polymorphisms or negative in terms of both mutations and polymorphisms. The results of study showed us that high-risk group mutations are important risk factors for ischemic stroke but low-risk group polymorphisms are not significant. According to platelet parameters, although there was a significant difference between MPV and PLT values of ischemic stroke and control group, thrombophilia mutations and polymorphisms have not a significant effect on MPV and PLT values in ischemic stroke patients.
一种重要的动脉血栓形成,缺血性中风与死亡率增加、严重残疾和生活质量受损有关。在这项研究中,我们分析了有缺血性中风病史的患者的平均血小板体积、血小板计数值和遗传血栓形成倾向标志物,并探讨了这些参数与缺血性中风遗传易感性的关系。通过回顾 599 名缺血性中风患者(除隐匿性事件外)和 100 名对照的缺血性中风病史,进行了回顾性、临床试验。将遗传血栓形成倾向分析的结果用于将研究组和对照组分为血栓形成倾向低风险组和高风险组。高风险组包括因子 II g.20210G>A 或因子 V 莱顿突变纯合子/杂合子的患者,无论是否存在其他多态性。低风险组包括 MTHFR(C677T、A1298C)、PAI-1、β-纤维蛋白原、因子 XIIIa(V34L)和糖蛋白 IIIa(L33P)多态性杂合子或纯合子的患者,或突变和多态性均为阴性的患者。研究结果表明,高风险组突变是缺血性中风的重要危险因素,但低风险组多态性对缺血性中风患者的 MPV 和 PLT 值没有显著影响。根据血小板参数,尽管缺血性中风组和对照组的 MPV 和 PLT 值之间存在显著差异,但血栓形成倾向的突变和多态性对缺血性中风患者的 MPV 和 PLT 值没有显著影响。