The association between the polymorphism of FXI c.539A>G and venous thromboembolism in the population of central china.

Abstract

Background: Venous thromboembolism (VTE) has a genetic component that can differ significantly among populations. The genetic landscape of VTE in China, where incidence is rising, may harbor unique susceptibilities. This study aimed to examine the factor XI (FXI) c.539A>G polymorphism's role in VTE risk and its correlation with FXI levels among central Chinese VTE patients.

Methods: We included 1748 VTE patients and 1819 matched controls, and extracted genomic DNA. Direct sequencing identified the FXI c.539A>G mutation in 50 patient samples. FXI antigen levels were quantified using ELISA, and bioinformatics evaluated the mutation's biological significance.

Results: The FXI c.539A>G mutation occurred in three heterozygous individuals. It was more prevalent in VTE patients (2.26%) than controls (1.37%), with a significant odds ratio of 1.66 (95% CI: 1.16-2.37, P = 5.03 × 10-3). Patients with the mutation showed increased FXI antigen levels (16.76 ± 5.78 ng/ml) versus the wild-type (10.77 ± 4.98 ng/ml, P = 1.20 × 10-3), without affecting FXI activity (P = 0.57).

Conclusion: The FXI c.539A>G variant is associated with VTE in central China, marked by elevated FXI antigen levels but not altered activity. This finding suggests that FXI c.539A>G may serve as a genetic marker for VTE risk. Further studies are needed to explore its role in early screening of VTE and gene-environment interactions.