Pongrácz Endre, Tordai Attila, Csornai Márta, Nagy Zoltán
BM Központi Kórház és Intézményei, Neurológiai Osztály, 1071 Budapest, Városligeti fasor 9-13.
Ideggyogy Sz. 2002 Mar 20;55(3-4):111-7.
The classical risk factors did not explain all the possible etiology of cerebral stroke. Genetic polymorphisms responsible for thrombophilia were implicated recently as risk factors of stroke. In this genetico-epidemiological study the author's aim was to analyse the tendency of genetic polymorphisms to cluster in a cohort of young and elderly stroke patients and in healthy subjects in Hungary.
253 patients with stroke were compared with 173 healthy blood donors on the basis of genetic polymorphisms of platelet GP IIb/IIIa receptor (33 LeuPro), prothrombin gene G20210A, Factor V Leiden mutation, ACE I/D, methylenetetrahydrofolate reductase (MTHFR) and beta fibrinogen gene G455A. These data were acquired using PCR. Questionnaires were used to investigate the family history and to determine the risk factor profile. The subtypes of stroke were analysed in a stroke cohort grouped according to different polymorphisms.
An increased frequency of GP IIIa heterozygosity was found as compared to a West-European stroke cohort (31% versus 19%). The prothrombin gene variant (2.9% European and 4.8% in Hungary) was also found to increase in frequency. In young stroke patients (age < 50) compared with control subjects the odds ratios were higher: in prothrombin gene (OR: 4.9), in Leiden mutation (OR: 1.67), in fibrinogen gene (OR: 1.64) and in MTHFR(+/+) (OR: 1.58). Clustering of two polymorphisms could only be detected in young patients. These clustering polymorphisms were GP IIb/IIIa with prothrombin G20210A variant (OR: 6.74, 95% CI 1.1-18.2) and prothrombin gene variant with MTHFR (OR: 5.3, CI95 1.2-8.3).
Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.
经典风险因素并不能解释脑卒中所有可能的病因。近期有研究表明,与血栓形成倾向相关的基因多态性是脑卒中的风险因素。在这项遗传流行病学研究中,作者旨在分析匈牙利年轻和老年脑卒中患者队列以及健康受试者中基因多态性的聚集趋势。
基于血小板糖蛋白IIb/IIIa受体(33 LeuPro)、凝血酶原基因G20210A、因子V Leiden突变、ACE I/D、亚甲基四氢叶酸还原酶(MTHFR)和β纤维蛋白原基因G455A的基因多态性,对253例脑卒中患者与173名健康献血者进行比较。这些数据通过聚合酶链反应(PCR)获得。采用问卷调查来调查家族史并确定风险因素谱。在根据不同多态性分组的脑卒中队列中分析脑卒中亚型。
与西欧脑卒中队列相比,发现GP IIIa杂合子频率增加(31%对19%)。凝血酶原基因变异(欧洲人为2.9%,匈牙利人为4.8%)的频率也有所增加。与对照组相比,年轻脑卒中患者(年龄<50岁)的优势比更高:凝血酶原基因(优势比:4.9)、Leiden突变(优势比:1.67)、纤维蛋白原基因(优势比:1.64)和MTHFR(+/+)(优势比:1.58)。仅在年轻患者中检测到两种多态性的聚集。这些聚集的多态性是GP IIb/IIIa与凝血酶原G20210A变异(优势比:6.74,95%可信区间1.1 - 18.2)以及凝血酶原基因变异与MTHFR(优势比:5.3,95%可信区间1.2 - 8.3)。
止血因子的特定和聚集性基因多态性可能是中欧脑卒中高发病率的原因。这些因素的存在和聚集趋势在年轻脑卒中患者中已有描述。