Blood: Full exome sequencing clears that the rare variation of STAB2 is closely related to VTE

Deep vein thrombosis and pulmonary embolism, collectively known as venous thromboembolism (VTE), are the third leading cause of cardiovascular disease death in the United StatesThe Whole Genome Association Study (GWAS) has identified common genetic variants that contribute to increased risk of venous thromboembolism in varying degreesRare mutations in the anticoagulant genes PROC, PROS1, and SERP INC1 lead to fatal thrombosis during the perinatal period of pure heron, and significantly increase the VTE risk of heterogeneicsHowever, the VTE variant described today represents only a small percentage of the risk of conventional use in clinical decision-makingin order to identify new rare VTE risk variants, Desch and others performed an exome sequencing analysis on 393 patients without cause VTE and 6,114 controlsresearchers identified four genes that carry an excessive number of rare harmful variants in VTE patients, namely PROS1, STAB2, PROC and SERP INC1For example, STAB2, 7.8% of VTE patients carry a rare mutation in the gene, while in the control, only 2.4% of individuals carry the gene's rare mutationin cell culture, the surface expression level of STAB2 carrying VTE-related variants decreased compared to the control of STAB2The common variations in STAB2 were associated with plasma vascular haemophilia factors and coagulation factor VIII levels in GWAS, suggesting that insufficient single dose of stabilin-2 may increase the risk of VTE by increasing the levels of these coagulantsthe researchers found in an independent queue that individuals carrying a rare variant of STAB2 had higher levels of vascular hemophilia factor and equivalent pre-peptide levels than the control group, this study proves the usefulness of identifying sites with a large number of rare variants that are functionally linked to complex thrombosis