@misc{9241119,
  abstract     = {{Venous thromboembolism (VTE) is a health condition that forms clots in the body, ranking among the three most common diseases that cause death. Anticoagulants are prescribed as a therapy for three to six months, depending on the patient’s risk factors. However, some incidents of VTE are described as unprovoked, where there is no risk factor. In these cases, it is assumed that there is a genetic predisposition, and patients are not treated prolonged.
To accurately predict the duration of the anticoagulant therapy, eliminating recurrence, this study aimed to investigate 10 SNPs in VTE-related proteins. In detail, 1,465 Swedish patients participated in a prospective study called Malmö Thrombophilia Study (MATS), and from these, 1,311 were included in this research. Through genotyping, their DNA samples were analyzed for the following SNPs: rs1063856 in the von Willebrand factor (VWF) gene, rs1800291 in Factor VIII (F8), rs710446 in Kininogen 1 (KNG1), rs780094 in Glucokinase Regulatory Protein (GCKR), rs6048 in Factor IX (F9), rs11556218 in Interleukin-16 (IL16), rs11591147 in Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9), rs34097149 in Probable G-protein Coupled Receptor 149/Neprilysin (GPR149/MME), rs73149254 in GATA Binding Protein 5 (GATA5), and rs72844599 in Thrombospondin Type 1 Domain Containing 7B (THSD7B).
The genotyped results were then statistically analyzed for recurrence association. After Cox regression analysis, most of the single-nucleotide polymorphisms (SNPs) were not related to VTE recurrence. However, KNG1 rs710446 and PCSK9 rs11591147 showed an increased recurrence risk in both univariate and multivariate analyses. Specifically, regarding KNG1 rs710446 in multivariate analyses, the results showed a Hazard ratio of 1.62 (95% CI: 1.04-2.51, p = 0.031). Furthermore, PCSK9 rs11591147 showed in the total cohort a Hazard ratio of 3.40 (95% CI: 1.57-7.36, p = 0.002), while in unprovoked cases, the HR was 3.75 (95% CI: 1.50-9.37, p = 0.005) after multivariate adjustment. Interestingly, PCSK9 showed an association with VTE recurrence in unprovoked cases for the first time in this research.
In conclusion, despite the fact that there were no statistically significant associations observed for most of the polymorphisms, KNG1 rs710446 and PCSK9 rs11591147 were significantly related to VTE recurrence.}},
  author       = {{Skarpelou, Eleni}},
  language     = {{eng}},
  note         = {{Student Paper}},
  title        = {{Analysis of Genetic Risk Factors for VTE recurrence: Genotyping in Malmö Thrombophilia Study}},
  year         = {{2026}},
}