The frequencies of thrombophilic alleles known from GWAS studies in healthy population and in group of patients with venous thromboembolism (VTE) in the Czech Republic
Abstract
There is no single causative factor in the ethiopathogenesis of VTE as it is a multifactorial disorder. Results of genome-wide association studies (GWAS) have been published in the last years, involving examinations of known single nucleotide polymorphisms (SNP) in cohorts of individuals who suffered from VTE, and healthy controls.2 The aim of our study was to determine frequency of alleles of the three already known thrombophilic mutations with clinically significant risk of VTE (FVL [Arg534Gln, rs6025], prothrombin F2 [20210G>A, rs1799963], and SERPINE1 [4G/5G, rs1799889]) as well as of three other newly detected polymorphisms related to VTE that have been established in GWAS (GP6 [Ser219Pro, rs1613662], SERPINC1 [IVS +141G>A, rs2227589], and CYP4V2 [Lys259Gln, rs13146272]) in a population of healthy, middle-aged individuals and in patients with well documented VTE from the area of Central Bohemia.