The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech Population
Introduction Study 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. Methods The following gene SNPs were detected in both groups: F5 Leiden...
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SAGE Publishing
2025-03-01
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| Series: | Clinical and Applied Thrombosis/Hemostasis |
| Online Access: | https://doi.org/10.1177/10760296251324202 |
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| author | Tomas Kvasnicka MD, PhD Renata Cifkova MD, PhD Zuzana Zenahlikova MD, PhD Petra Bobcikova MSc Alena Syruckova MSc Martin Sevcik MSc, PhD Daniela Dusková MD, PhD Jan Kvasnicka MD, PhD |
| author_facet | Tomas Kvasnicka MD, PhD Renata Cifkova MD, PhD Zuzana Zenahlikova MD, PhD Petra Bobcikova MSc Alena Syruckova MSc Martin Sevcik MSc, PhD Daniela Dusková MD, PhD Jan Kvasnicka MD, PhD |
| author_sort | Tomas Kvasnicka MD, PhD |
| collection | DOAJ |
| description | Introduction Study 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. Methods The following gene SNPs were detected in both groups: F5 Leiden (rs6025), F2 (rs1799963), FGG , fibrinogen gamma' (rs2066865), F11 (rs2289252) and ABO (rs8176719). Statistical analysis was performed using SAS statistical software with population genetics tools. Results Heterozygotes for F5 Leiden were associated with a 5.58-fold and homozygotes F5 Leiden with a 33.46-fold increased risk of VTE. At SNP rs1799963 ( F2 , prothrombin), only heterozygotes had a significant 3.9-fold increased risk of VTE. The findings at SNP rs2066865 (fibrinogen gamma', FGG ) showed a 1.37-fold increased risk of VTE for FGG heterozygotes and a 1.77-fold increased risk of VTE for FGG 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 ( F11 ). Further higher increases in the risk of VTE in both variants were found in patients with VTE at rs8176719 ( ABO , 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. Conclusion Besides F5 Leiden and prothrombin mutation, the study suggests that the gene polymorphisms of FGG (rs2066865), F11 (rs2289252) and ABO (rs8176719) play a role as an independent heritable risk factor for VTE in the Czech population. |
| format | Article |
| id | doaj-art-05a77b6eeb374fdea00c97fbb7dcb8c6 |
| institution | DOAJ |
| issn | 1938-2723 |
| language | English |
| publishDate | 2025-03-01 |
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| series | Clinical and Applied Thrombosis/Hemostasis |
| spelling | doaj-art-05a77b6eeb374fdea00c97fbb7dcb8c62025-08-20T02:55:49ZengSAGE PublishingClinical and Applied Thrombosis/Hemostasis1938-27232025-03-013110.1177/10760296251324202The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech PopulationTomas Kvasnicka MD, PhD0Renata Cifkova MD, PhD1Zuzana Zenahlikova MD, PhD2Petra Bobcikova MSc3Alena Syruckova MSc4Martin Sevcik MSc, PhD5Daniela Dusková MD, PhD6Jan Kvasnicka MD, PhD7 Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, and General University Hospital, Prague, Czech Republic Center for Cardiovascular Prevention, and Thomayer University Hospital, Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, and General University Hospital, Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, and General University Hospital, Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, and General University Hospital, Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, and General University Hospital, Prague, Czech Republic Department of Blood Transfusion, and General University Hospital, Prague, Czech Republic 1st Department of Medicine, Division of Hematology, and General University Hospital, Prague, Czech RepublicIntroduction Study 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. Methods The following gene SNPs were detected in both groups: F5 Leiden (rs6025), F2 (rs1799963), FGG , fibrinogen gamma' (rs2066865), F11 (rs2289252) and ABO (rs8176719). Statistical analysis was performed using SAS statistical software with population genetics tools. Results Heterozygotes for F5 Leiden were associated with a 5.58-fold and homozygotes F5 Leiden with a 33.46-fold increased risk of VTE. At SNP rs1799963 ( F2 , prothrombin), only heterozygotes had a significant 3.9-fold increased risk of VTE. The findings at SNP rs2066865 (fibrinogen gamma', FGG ) showed a 1.37-fold increased risk of VTE for FGG heterozygotes and a 1.77-fold increased risk of VTE for FGG 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 ( F11 ). Further higher increases in the risk of VTE in both variants were found in patients with VTE at rs8176719 ( ABO , 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. Conclusion Besides F5 Leiden and prothrombin mutation, the study suggests that the gene polymorphisms of FGG (rs2066865), F11 (rs2289252) and ABO (rs8176719) play a role as an independent heritable risk factor for VTE in the Czech population.https://doi.org/10.1177/10760296251324202 |
| spellingShingle | Tomas Kvasnicka MD, PhD Renata Cifkova MD, PhD Zuzana Zenahlikova MD, PhD Petra Bobcikova MSc Alena Syruckova MSc Martin Sevcik MSc, PhD Daniela Dusková MD, PhD Jan Kvasnicka MD, PhD The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech Population Clinical and Applied Thrombosis/Hemostasis |
| title | The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech Population |
| title_full | The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech Population |
| title_fullStr | The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech Population |
| title_full_unstemmed | The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech Population |
| title_short | The Prevalence of the Thrombotic SNPs rs6025, rs1799963, rs2066865, rs2289252 and rs8176719 in Patients with Venous Thromboembolism in the Czech Population |
| title_sort | prevalence of the thrombotic snps rs6025 rs1799963 rs2066865 rs2289252 and rs8176719 in patients with venous thromboembolism in the czech population |
| url | https://doi.org/10.1177/10760296251324202 |
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