Clinic of Cardiology, Faculty of Medicine, Ss. Cyril and Methodius University, Blvd. Krste Petkov Misirkov bb, 1000 Skopje, Republic of Macedonia.
Kardiol Pol. 2009 Oct;67(10):1088-94.
Raised SERPINE1 plasma levels are related to a 1-bp guanine deletion/insertion (4G5G) polymorphism in the promoter of the SERPINE1 (plasminogen activator inhibitor 1 - PAI1) gene. Evidence suggested that the plasma levels of SERPINE1 modulate the risk of coronary artery disease; furthermore, that the 4G5G polymorphism affects the expression of the SERPINE1 gene.
To analyse association of SERPINE1 polymorphism with occlusive artery disease (OAD) and deep venous thrombosis (DVT) in Macedonians in order to investigate its role as a part of candidate genes in different vascular diseases in Macedonians.
Investigated groups consisted of 82 healthy patients, 75 with OAD, and 66 with DVT. Blood samples were collected after written informed consent was obtained, and DNA was isolated from peripheral blood leukocytes. Identification of SERPINE1 polymorphism was done with CVD StripAssay (ViennaLab, Labordiagnostica GmbH, Austria). The population genetics analysis package, PyPop, was used for analysis of the SERPINE1 data. Pearson's P-values, crude odds ratio and Wald's 95% CI were calculated with Bonferroni corrected p value.
The frequency of 4G allele for SERPINE1 was 0.538 for DVT, 0.555 for healthy participants, and 0.607 for OAD. The frequency of 5G allele for SERPINE1 was the smallest in patients with OAD (0.393) and was higher in healthy participants (0.445), and patients with DVT (0.462). Test of neutrality (Fnd) showed negative value, but was significantly different from 0 for SERPINE1 in healthy participants (p of F = 0.041) and in patients with DVT (p of F = 0.030). SERPINE1 genotypes in healthy participants and patients with OAD were not in Hardy Weinberg proportions (p = 0.019 and 0.001, respectively). No association between SERPINE1 polymorphisms and OAD or DVT was found.
There is no significant relationship between SERPINE1 polymorphisms and occlusive artery disease or deep venous thrombosis in Macedonian population.
血清素 1 （丝氨酸蛋白酶抑制剂 1 - PAI1）基因启动子中的鸟嘌呤缺失/插入（4G5G）多态性与血清素 1 （纤溶酶原激活物抑制剂 1）血浆水平升高有关。有证据表明，血清素 1 的血浆水平调节冠心病的风险；此外，4G5G 多态性影响血清素 1 基因的表达。
分析血清素 1 多态性与马其顿人闭塞性动脉疾病（OAD）和深静脉血栓形成（DVT）的关系，以研究其作为候选基因在马其顿人不同血管疾病中的作用。
调查对象包括 82 名健康患者、75 名 OAD 患者和 66 名 DVT 患者。在获得书面知情同意后采集血样，从外周血白细胞中分离 DNA。使用 CVD StripAssay（维也纳实验室，Labordiagnostica GmbH，奥地利）鉴定 SERPINE1 多态性。使用群体遗传学分析包 PyPop 分析 SERPINE1 数据。使用 Bonferroni 校正的 P 值计算 Pearson 的 P 值、粗比值比和 Wald 的 95%CI。
SERPINE1 的 4G 等位基因频率为 DVT 为 0.538，健康参与者为 0.555，OAD 为 0.607。SERPINE1 的 5G 等位基因频率在 OAD 患者中最小（0.393），在健康参与者中（0.445）和 DVT 患者中（0.462）较高。中性检验（Fnd）显示负值，但在健康参与者（p of F = 0.041）和 DVT 患者（p of F = 0.030）中与 0 显著不同。健康参与者和 OAD 患者的 SERPINE1 基因型均未处于 Hardy Weinberg 比例（p = 0.019 和 0.001）。未发现 SERPINE1 多态性与 OAD 或 DVT 之间存在关联。
在马其顿人群中，SERPINE1 多态性与闭塞性动脉疾病或深静脉血栓形成之间无显著关系。
