深静脉血栓易感基因与危险因素相互关系研究

Deep venous thrombosis is extremely common medical problem, occurring either in isolation or as a complication of other diseases or procedures. An unexpected thrombus could fall off from the vein without any symptoms of deep venous thrombosis. As a results, the acute life-threatening pulmonary embolism was occurred. Yet, despite its frequency, much remains to be learned regarding the pathogenic mechanisms that deep venous thrombosis. Now, there is a growing tendency to pay more attention to how to diagnosis the deep venous thrombosis or the risk Factor of deep venous thrombosis. But the deep venous thrombosis is not only influenced by the genes, tumors, and other disease, but also influenced by the individual factors, such as fat and diet. In the present study, the SNPs which may be as a risk factor for deep venous thrombosis will be found from the database such as GeneBank. The Single-nucleotide polymorphism of these genes will be detected, and a questionnaire will be conducted to analysis the individual factors. Finally, the logistic regression method will be used to found the relationship between deep venous thrombosis and SNPs and individuals Factors.

深静脉血栓形式是一种非常常见的疾病,不仅能够引起不同程度的静脉功能不全，而且有些深静脉学血栓在完全没有任何症状的情况下突然脱落,造成肺动脉栓塞从而严重危及生命,目前越来越受到人们的重视.目前国内外对于深静脉血栓的研究大部分集中在深静脉血栓形成后,如何通过检测血液样本中指标来衡量是否有深静脉血栓形成和单一某些基因的突变(如凝血因子)对深静脉血栓的影响方法.而深静脉血栓不仅与基因的突变有关,也与自身因素有根大的关系,但国内外研究缺少对个体因素-易感基因在深静脉血栓形成过程中的系统研究.本研究拟通过对相关数据库检索,发现与深静脉血栓形成有关的SNPs位点,①进行大样本SNPs病例对照研究；②通过问卷调查病例组和对照组样本的个体因素（如身高、体重、营养状态等），最后采用logistic回归的方法，发现与深静脉血栓形成有关的个体因素-易感基因，为深静脉血栓脱落所致的肺动脉栓塞预防、诊断提供依据。

深静脉血栓形成（Deep Venous Thrombosis）是血管外科中较为常见的周围血管疾病。DVT发病率高、致残率高, 其栓子脱落导致的肺动脉栓塞是患者死亡的首要因素,目前越来越受到人们的重视。深静脉血栓不仅与基因的突变有关,也与自身因素有很大的关系。 本研究关注个体因素与 DVT 易感基因的交互作用，通过大样本的病例对照研究，利用KASP基因芯片检测技术检测筛选出来的11个 SNPs位点突变和等位基因类型。病例组和对照组样本均通过了Hardy-Weinberg遗传平衡检验，可认为本次研究所选取的样本具有群体代表性。统计结果显示在DVT组和对照组所有样本的11个SNPs中，有4个SNPs位点突变数量极少或者等位基因未检测到发生突变，它们分别是rs146922325、rs1799889、rs1799963和rs6025。在剩余的8个SNPs位点中运用Logistic回归，分析个体因素-SNPs位点基因型与深静脉血栓的关系，分别计算影响因素的OR值和95%CI，为深静脉血栓脱落所致的肺动脉栓塞预防、诊断提供依据。