Herm Juliane, Hoppe Berthold, Siegerink Bob, Nolte Christian H, Koscielny Jürgen, Haeusler Karl Georg
Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Center for Stroke Research Berlin, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Front Cardiovasc Med. 2017 Jun 9;4:39. doi: 10.3389/fcvm.2017.00039. eCollection 2017.
While twin studies indicate a genetic component in arterial thrombosis such as ischemic stroke, myocardial infarction (MI), or peripheral arterial occlusive disease (PAOD), the clinical relevance of hemostatic polymorphisms in arterial thrombosis is a matter of debate.
We analyzed the prevalence of 13 hemostatic polymorphisms [ (including factor V and HR2 haplotype), , and ] in patients referred to a tertiary referral center. A "prothrombotic score" was calculated by dividing the number of risk-increasing polymorphisms for thrombosis minus the number of risk-lowering polymorphisms ( and ) by the number of polymorphisms tested.
Datasets of 144 patients with prior ischemic stroke (mean age 44 ± 13 years; 65% female) were compared to 62 patients with MI or PAOD (mean age 54 ± 14 years; 47% female). The prothrombotic score was lower in MI and PAOD patients compared to stroke patients [odds ratios 2.7 (95% confidence intervals 1.1-6.2)]. Frequencies of individual polymorphisms did not differ between both groups.
Patients with MI or PAOD had a lower burden of prothrombotic mutations compared to patients with prior stroke, indicating that a prothrombotic state might play a different role in distinct forms of arterial thrombosis.
虽然双胞胎研究表明动脉血栓形成(如缺血性中风、心肌梗死(MI)或外周动脉闭塞性疾病(PAOD))存在遗传因素,但止血多态性在动脉血栓形成中的临床相关性仍存在争议。
我们分析了转诊至三级转诊中心的患者中13种止血多态性(包括因子V和HR2单倍型等)的患病率。通过将血栓形成风险增加多态性的数量减去风险降低多态性(和)的数量,再除以检测的多态性数量,计算出“促血栓形成评分”。
将144例既往有缺血性中风患者(平均年龄44±13岁;65%为女性)的数据集与62例心肌梗死或外周动脉闭塞性疾病患者(平均年龄54±14岁;47%为女性)的数据集进行比较。与中风患者相比,心肌梗死和外周动脉闭塞性疾病患者的促血栓形成评分较低[比值比2.7(95%置信区间1.1 - 6.2)]。两组之间个体多态性的频率没有差异。
与既往有中风的患者相比,心肌梗死或外周动脉闭塞性疾病患者的促血栓形成突变负担较低,这表明促血栓形成状态在不同形式的动脉血栓形成中可能发挥不同的作用。