The role of tissue factor pathway inhibitor (TFPI) polymorphisms T-287C and T-33C in the risk of venous thromboembolism: a case control-study

• Grant number: 12/14407-2
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: November 01, 2012
• End date: October 31, 2013
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Vânia Maris Morelli
• Grantee: Priscila Dias Cardoso Ribeiro
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Venous thromboembolism (VTE) is a major cause of morbidity and mortality in the general population. Given its multifactorial nature, the establishment of new risk factors associated with VTE is an essential step for better understanding the mechanisms involved in its pathophysiology. Among the risk factors, in recent years the role of tissue factor pathway inhibitor (TFPI) has been particularly been investigated. TFPI regulates thrombin generation in the initial phase of coagulation activation and its reduction in plasma may increase the risk of VTE. TFPI levels are, at least in part, genetically determined. Two single nucleotide polymorphisms (SNPs) (T-287C and T-33C) in the TFPI gene were associated with increased TFPI levels in the presence of the rare alleles, thus yielding a potential protective effect in relation to VTE. Taking into account that data in the literature are scarce concerning the association of VTE with the above-mentioned SNPs, the objective of the present study is to evaluate the effect of T-287C and T-33C SNPs on the risk of VTE by comparing the genotype frequencies of both SNPs between patients and controls. This is a case-control study, which will include healthy controls and patients with a single event of VTE aged 18-60 years. The results of the present study could provide data to clarify whether the association between TFPI and VTE might, at least in part, be determined by genetic polymorphisms, thus contributing to the identification of new mechanisms involved in the pathophysiology of VTE.(AU)