Department of Vascular Surgery, the First Affiliated Hospital, Kunming Medical University, Kunming, China.
Department of Palliative Medicine, Yunnan Cancer Hospital, the Third Affiliated Hospital of Kunming Medical University, Kunming, China.
Clin Appl Thromb Hemost. 2021 Jan-Dec;27:1076029620967108. doi: 10.1177/1076029620967108.
To explore the possible single nucleotide polymorphisms (SNPs) sites in the promoter region of fibrinogen B β (FGB), and construct logistic regression model and haplotype model, so as to reveal the influence of FGB promoter SNPs on susceptibility, hemodynamics and coagulation function of lower extremity deep venous thrombosis (LEDVT) in the genetic background. LEDVT patients (120) and healthy people (120) were taken as case and control objects, respectively. SNPs and their genotypes of FGB promoter were detected by promoter sequencing and PCR-RFLP. The parameters of coagulation system were evaluated. There were 6 SNPs in FGB promoter, which were β-148C/T, β-249C/T, β-455G/A, β-854G/A, β-993C/T and β-1420G/A. The genotype and allele frequency of β-1420 G/A, β-455G/A, β-249c/T and β-148C/T were significantly different between the LEDVT group and the control group, but not β-993C/T and β-854G/A. In addition, we found that the higher the content of Fibrinogen (FG), the higher the risk of LEDVT. The risk of LEDVT increased by 4.579 times for every unit increase of fibrinogen. We also found that FG, PT and APTT in LEDVT group were higher than those in control group, while TT was lower than those in control group; Furthermore, there was no significant difference in all coagulation indexes among 6 SNP genotypes in LEDVT group, while a significant difference was found between the 2 genotypes of β-993C/T in the control group. β-993C/T may indirectly affect the susceptibility of LEDVT by improving the basic level of plasma FG.
目的 探讨纤维蛋白原 Bβ（FGB）启动子区可能存在的单核苷酸多态性（SNP）位点，构建 logistic 回归模型和单体型模型，揭示 FGB 启动子 SNP 在遗传背景下对下肢深静脉血栓形成（LEDVT）易感性、血液动力学和凝血功能的影响。分别选取 LEDVT 患者（120 例）和健康人（120 例）作为病例和对照对象，采用启动子测序和 PCR-RFLP 法检测 FGB 启动子 SNP 及其基因型，评估凝血系统参数。结果 FGB 启动子中存在 6 个 SNP，分别为β-148C/T、β-249C/T、β-455G/A、β-854G/A、β-993C/T 和β-1420G/A。β-1420G/A、β-455G/A、β-249C/T 和β-148C/T 的基因型和等位基因频率在 LEDVT 组和对照组之间差异有统计学意义，而β-993C/T 和β-854G/A 差异无统计学意义。此外，我们发现纤维蛋白原（FG）含量越高，LEDVT 的风险越高，FG 每增加一个单位，LEDVT 的风险增加 4.579 倍。还发现 LEDVT 组的 FG、PT 和 APTT 均高于对照组，TT 低于对照组；进一步发现 LEDVT 组 6 个 SNP 基因型的所有凝血指标差异均无统计学意义，而对照组β-993C/T 的 2 种基因型差异有统计学意义。β-993C/T 可能通过提高血浆 FG 的基础水平间接影响 LEDVT 的易感性。
