Study of the Association Between Factor V Methylation and Pulmonary Thromboembolism

As a serious life-threating condition, PTE has a high morbidity and mortality rate. Identification of effective biomarkers could improve the prognosis of PTE. In the present study, we have recruited 16 pairs of PTE patients and their kin-related relatives as controls to explore the association between DNA methylation and PTE. DNA methylation patterns of F5 and PROS1, the coding gene of PS, were analyzed by using MassArray PCR. The hotspot mutations of F5 and PROS1 were also profiled. We found that PTE patients tended to be older than their kin-related relative. Epigenetics was involved in PTE and PTE patients was found to have hypomethylated F5_CpG_10 and hypermethylated PROS1_CpG_29–33. Detection of F5_CpG_10 and PROS1_CpG_29–33 methylation might hold potential in early detection of PTE and surveillance of disease progression. Restoration of normal DNA methylation patterns could offer promising avenue for targeted intervention of PTE and deserves in-depth research.