Reuner K H, Ruf A, Grau A, Rickmann H, Stolz E, Jüttler E, Druschky K F, Patscheke H
Institute for Medical Laboratory Diagnostics, Klinikum Karlsruhe, Germany.
Stroke. 1998 Sep;29(9):1765-9. doi: 10.1161/01.str.29.9.1765.
It has been recently reported that a G-->A transition at nucleotide position 20210 in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of deep venous thrombosis. To date, it is unknown whether this polymorphism also represents a risk factor for cerebral venous thrombosis (CVT).
Venous blood samples were collected from 45 patients with CVT and from 354 healthy blood donors as controls. A second control group consisted of 131 subjects with acute ischemic stroke or transient ischemic attack (TIA). Genomic DNA was isolated from peripheral blood leukocytes. Amplification of DNA was performed by polymerase chain reaction (PCR). The G-->A transition at nucleotide position 20210 of the prothrombin gene was detected by allele-specific restriction digestion.
The G20210-->A transition in the prothrombin gene was found in a heterozygous form in 4 of 45 patients with CVT (8.9%) and in 8 of 354 healthy control subjects (2.3%). This difference was statistically significant (P=0.010). The G20210-->A transition increased the relative risk for CVT approximately 5-fold (age-adjusted odds ratio 5.7; 95% CI 1.5 to 21.5). In contrast, in the group of patients with acute cerebral ischemia, only 3 of 131 subjects (2.3%) were heterozygous for the G20210-->A transition, which corresponded to the prevalence in the group of healthy blood donors.
The recently described G20210-->A transition in the 3'-untranslated region of the prothrombin gene is an inherited risk factor for CVT but obviously not for acute ischemic stroke or TIA.
最近有报道称，凝血酶原基因3'非翻译区第20210位核苷酸处的G→A转变与血浆凝血酶原水平升高及深静脉血栓形成风险增加有关。迄今为止，尚不清楚这种多态性是否也是脑静脉血栓形成（CVT）的危险因素。
采集45例CVT患者的静脉血样本，并采集354名健康献血者作为对照。第二个对照组由131例急性缺血性中风或短暂性脑缺血发作（TIA）患者组成。从外周血白细胞中分离基因组DNA。通过聚合酶链反应（PCR）进行DNA扩增。通过等位基因特异性限制性消化检测凝血酶原基因第20210位核苷酸处的G→A转变。
在45例CVT患者中有4例（8.9%）以杂合形式发现凝血酶原基因的G20210→A转变，在354名健康对照者中有8例（2.3%）发现该转变。这种差异具有统计学意义（P=0.010）。G20210→A转变使CVT的相对风险增加约5倍（年龄调整优势比为5.7；95%可信区间为1.5至21.5）。相比之下，在急性脑缺血患者组中，131名受试者中只有3例（2.3%）为G20210→A转变的杂合子，这与健康献血者组中的患病率相当。
最近描述的凝血酶原基因3'非翻译区的G20210→A转变是CVT的一个遗传危险因素，但显然不是急性缺血性中风或TIA的危险因素。
