背景:慢性血栓栓塞性肺动脉高压(CTEPH)和静脉血栓栓塞(VTE)被认为具有许多共同的危险因素。我们的研究旨在确定CTEPH患者(n129)与无VTE病史的健康个体对照组(n2637)中与VTE相关的5种血栓相关基因单核苷酸多态性(SNP)的频率。
方法:研究了以下基因的SNP:F5(FVLeiden,rs6025),F2凝血酶原(rs1799963),纤维蛋白原γ(FGG,rs2066865),F11(rs2289252)和ABO(非O,rs8176719)在两组中。
结果:研究发现,与对照组相比,rs1799963变体在慢性血栓栓塞性肺动脉高压(CTEPH)患者中更为常见(p<.0001)。GA杂合变异体显示出显着增加,比值比(OR)为4.480(95%CI:2.344-8.562),或通过最大似然分析(MLA)发现,p<.0001。此外,在CTEPH患者中,rs8176719变异体显著增加,p<.0001。纯合G/G变体和杂合-/G变体也显示出增加,OR分别为4.2317(95%CI:2.45571-7.2919)和2.4324(95%CI:1.46435-4.0403),或MLA(p<0.0001和p.0006)。该研究还显示,在CTEPH患者中rs2289252的杂合C/T变体的患病率更高,OR为1.5543(95%CI:1.02503-2.3568)或MLA(第0379页)。
结论:研究表明,观察到的基因多态性F2(rs1799963),ABO(rs8176719),F11(rs2289252)可能是CTEPH发生发展的独立遗传危险因素。
BACKGROUND: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).
METHODS: The SNPs of the following genes were investigated: F5 (F V Leiden, rs6025), F2 prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), F11 (rs2289252) and ABO (non-O, rs8176719) in both groups.
RESULTS: The study found that the rs1799963 variant was more common in patients with chronic thromboembolic pulmonary hypertension (CTEPH) compared to the control group (p < .0001). The GA heterozygous variant showed a significant increase with an odds ratio (OR) of 4.480 (95% CI: 2.344-8.562) or a finding by maximum likelihood analysis (MLA) with p < .0001. Additionally, there was a notable increase in the rs8176719 variant with p < .0001 in CTEPH patients. Both the homozygous G/G variant and the heterozygous -/G variant also showed an increase, with OR of 4.2317 (95% CI: 2.45571-7.2919) and 2.4324 (95% CI: 1.46435-4.0403) respectively, or MLA (p < .0001 and p .0006). The study also revealed a higher prevalence of the heterozygous C/T variant of rs2289252 in CTEPH patients, with an OR of 1.5543 (95% CI: 1.02503-2.3568) or MLA (p .0379).
CONCLUSIONS: The study suggests that the observed gene polymorphisms F2 (rs1799963), ABO (rs8176719), and F11 (rs2289252) may play a role as independent heritable risk factors in the development of CTEPH.