Teofilov Sladjana, Miljanović Olivera, Vuckovic-Filipovic Jelena, Djordjevic Natasa
Center for Medical Genetics and Immunology, Clinical Centre, 81 000 Podgorica, Montenegro.
Department of Internal Medicine, Faculty of Medical Sciences, University of Kragujevac, 34 000 Kragujevac, Serbia.
Int J Mol Sci. 2025 Mar 7;26(6):2403. doi: 10.3390/ijms26062403.
The main goal of our study was to assess the potential effect of the polymorphism of the coagulation-related genes , , and on the risk of venous thromboembolism (VTE) development. The study was conducted at the Clinical Center, Podgorica, Montenegro, and included 103 VTE patients and 106 sex- and age-matched healthy controls. Demographic, clinical, and laboratory data were obtained from the medical records and questionnaires. Genotyping for 19911A>G (rs3136516), 6665A>G (rs6027), and 102G>T (rs5985) was performed by allele-specific PCR. Controlling for the effect of known risk factors, the presence of at least one variant 6665 G allele conferred a significantly higher risk of VTE among females [OR (95%CI): 64.06 (5.38; 763.61)], but not among males. In addition, thromboembolic events were associated with comorbidities [OR (95%CI): 197.10 (19.17; 2026.19)], overweight [OR (95%CI): 33.59 (2.47; 456.65)], and the presence of 20210G>A [OR (95%CI): 32.43 (4.21; 249.77)] and 1601G>A [OR (95%CI): 144.80 (13.59; 1542.63)] in females, as well as with comorbidities [OR (95%CI): 6.32 (1.90; 20.98)], family history of VTE [OR (95%CI): 8.10 (2.28; 28.83)], and the presence of 1601G>A [OR (95%CI): 20.10 (2.34; 173.02)] in males. Our study reports an association between the presence of at least one 6665G variant allele and an increased risk of VTE development in females. Our results indicate that 6665A>G, in combination with other confirmed factors of influence, such as comorbidities, overweight, 20210G>A, and 1601G>A, could contribute to VTE risk prediction in females.
我们研究的主要目标是评估凝血相关基因、和的多态性对静脉血栓栓塞症(VTE)发生风险的潜在影响。该研究在黑山共和国波德戈里察临床中心进行,纳入了103例VTE患者和106例性别及年龄匹配的健康对照。人口统计学、临床和实验室数据通过病历和问卷获取。采用等位基因特异性PCR对19911A>G(rs3136516)、6665A>G(rs6027)和102G>T(rs5985)进行基因分型。在控制已知风险因素影响后,至少存在一个6665 G等位基因变异在女性中赋予了显著更高的VTE风险[比值比(95%置信区间):64.06(5.38;763.61)],但在男性中并非如此。此外,血栓栓塞事件与合并症[比值比(95%置信区间):197.10(19.17;2026.19)]、超重[比值比(95%置信区间):33.59(2.47;456.65)]以及女性中20210G>A[比值比(95%置信区间):32.43(4.21;249.77)]和1601G>A[比值比(95%置信区间):144.80(13.59;1542.63)]的存在相关,在男性中则与合并症[比值比(95%置信区间):6.32(1.90;20.98)]、VTE家族史[比值比(95%置信区间):8.10(2.28;28.83)]以及1601G>A[比值比(95%置信区间):20.10(2.34;173.02)]的存在相关。我们的研究报告了至少存在一个6665G变异等位基因与女性VTE发生风险增加之间的关联。我们的结果表明,6665A>G与其他已证实的影响因素,如合并症、超重、20210G>A和1601G>A相结合,可能有助于预测女性的VTE风险。