Program: Oral and Poster Abstracts
Session: 321. Blood Coagulation and Fibrinolytic Factors: Poster III
Objectives: To explore the variations of SERPINC1 gene associated with venous thrombosis in the Chinese population.
Methods: SERPINC1 gene sequencing was carried out. A case- control study involving 1335 patients diagnosed with VT and 1315 Age- and sex- matched control individuals without a history of thrombosis were further carried out. Furthermore, plasma AT activity, AT antigen, and thrombin generation tests (TGT) were performed to evaluate the influences of the mutations.
Results: Four different missense mutations were identified in an unreported hot spot region of SERPINC1. They were c.880C>T(p.Arg294Cys), c.881G>T(p.Arg294Leu), c.881G>A(p.Arg294His) and c.883G>A(p.Val295Met). All of the affected individuals were heterozygotes. In addition, c.883G>A was found to be a predominant mutation. In the case-control study, the mutation was proved to be a strong risk factor for venous thrombosis with an OR of 10.92(p<0.01, 95%CI 1.41-84.68). Functional assays showed that both the activities and antigens of plasma AT decreased mildly.
Conclusion: A hot spot mutation region of SERPINC1 gene was discovered. The predominant mutation of SERPINC1 c.883G>A is the most frequent cause of AT deficiency and is associated with an increased risk of venous thrombosis in the Chinese population.
Disclosures: No relevant conflicts of interest to declare.
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