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IntroductionStudy aimed to determine the occurrence of 5 thrombosis-related single-nucleotide polymorphisms (SNPs) in patients with venous thromboembolism (VTE) (n = 2630) and a control group (n = 2637) in the Czech population.MethodsThe following gene SNPs were detected in both groups: Leiden (rs6025), (rs1799963), , fibrinogen gamma' (rs2066865), (rs2289252) and (rs8176719). Statistical analysis was performed using SAS statistical software with population genetics tools.ResultsHeterozygotes for Leiden were associated with a 5.58-fold and homozygotes Leiden with a 33.46-fold increased risk of VTE. At SNP rs1799963 (, prothrombin), only heterozygotes had a significant 3.9-fold increased risk of VTE. The findings at SNP rs2066865 (fibrinogen gamma', ) showed a 1.37-fold increased risk of VTE for heterozygotes and a 1.77-fold increased risk of VTE for homozygotes. There is also a significant 1.42-fold increase risk of VTE in the heterozygotes and a 1.80-fold increase risk of VTE in the homozygotes of the SNP rs 2289252 (). Further higher increases in the risk of VTE in both variants were found in patients with VTE at rs8176719 (, non-O). It corresponds to a 2.2-fold increase in the risk of VTE in heterozygotes and a 3.5-fold increase in the risk of VTE in homozygotes.ConclusionBesides Leiden and prothrombin mutation, the study suggests that the gene polymorphisms of (rs2066865), (rs2289252) and (rs8176719) play a role as an independent heritable risk factor for VTE in the Czech population.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11915282PMC
http://dx.doi.org/10.1177/10760296251324202DOI Listing

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