The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension
Introduction Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTE...
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SAGE Publishing
2024-08-01
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| Series: | Clinical and Applied Thrombosis/Hemostasis |
| Online Access: | https://doi.org/10.1177/10760296241271369 |
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| author | Jan Kvasnička MD, PhD Pavel Jansa MD, PhD Renata Cífková MD, PhD Daniela Dušková MD, PhD Petra Bobčíková MSc Martin Ševčík MSc, PhD Zuzana Zenáhlíková MD, PhD Tomáš Kvasnička MD, PhD |
| author_facet | Jan Kvasnička MD, PhD Pavel Jansa MD, PhD Renata Cífková MD, PhD Daniela Dušková MD, PhD Petra Bobčíková MSc Martin Ševčík MSc, PhD Zuzana Zenáhlíková MD, PhD Tomáš Kvasnička MD, PhD |
| author_sort | Jan Kvasnička MD, PhD |
| collection | DOAJ |
| description | Introduction Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637). Methods The SNPs of the following genes were investigated: F5 (F V Leiden, rs6025), F2 prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), F11 (rs2289252) and ABO (non-O, rs8176719) in both groups. Results The study found that the rs1799963 variant was more common in patients with chronic thromboembolic pulmonary hypertension (CTEPH) compared to the control group (p < .0001). The GA heterozygous variant showed a significant increase with an odds ratio (OR) of 4.480 (95% CI: 2.344-8.562) or a finding by maximum likelihood analysis (MLA) with p < .0001. Additionally, there was a notable increase in the rs8176719 variant with p < .0001 in CTEPH patients. Both the homozygous G/G variant and the heterozygous -/G variant also showed an increase, with OR of 4.2317 (95% CI: 2.45571-7.2919) and 2.4324 (95% CI: 1.46435-4.0403) respectively, or MLA (p < .0001 and p .0006). The study also revealed a higher prevalence of the heterozygous C/T variant of rs2289252 in CTEPH patients, with an OR of 1.5543 (95% CI: 1.02503-2.3568) or MLA (p .0379). Conclusion The study suggests that the observed gene polymorphisms F2 (rs1799963), ABO (rs8176719), and F11 (rs2289252) may play a role as independent heritable risk factors in the development of CTEPH. |
| format | Article |
| id | doaj-art-1ab4dd4c76904910b2d76ed8241ae4e0 |
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| language | English |
| publishDate | 2024-08-01 |
| publisher | SAGE Publishing |
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| series | Clinical and Applied Thrombosis/Hemostasis |
| spelling | doaj-art-1ab4dd4c76904910b2d76ed8241ae4e02025-08-20T01:58:12ZengSAGE PublishingClinical and Applied Thrombosis/Hemostasis1938-27232024-08-013010.1177/10760296241271369The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertensionJan Kvasnička MD, PhD0Pavel Jansa MD, PhD1Renata Cífková MD, PhD2Daniela Dušková MD, PhD3Petra Bobčíková MSc4Martin Ševčík MSc, PhD5Zuzana Zenáhlíková MD, PhD6Tomáš Kvasnička MD, PhD7 1st Department of Medicine, Division of Haematology, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic 2nd Department of Medicine, Division of Cardiovascular Medicine, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic Centre for Cardiovascular Prevention, 1st Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czech Republic Department of Blood Transfusion, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech RepublicIntroduction Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637). Methods The SNPs of the following genes were investigated: F5 (F V Leiden, rs6025), F2 prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), F11 (rs2289252) and ABO (non-O, rs8176719) in both groups. Results The study found that the rs1799963 variant was more common in patients with chronic thromboembolic pulmonary hypertension (CTEPH) compared to the control group (p < .0001). The GA heterozygous variant showed a significant increase with an odds ratio (OR) of 4.480 (95% CI: 2.344-8.562) or a finding by maximum likelihood analysis (MLA) with p < .0001. Additionally, there was a notable increase in the rs8176719 variant with p < .0001 in CTEPH patients. Both the homozygous G/G variant and the heterozygous -/G variant also showed an increase, with OR of 4.2317 (95% CI: 2.45571-7.2919) and 2.4324 (95% CI: 1.46435-4.0403) respectively, or MLA (p < .0001 and p .0006). The study also revealed a higher prevalence of the heterozygous C/T variant of rs2289252 in CTEPH patients, with an OR of 1.5543 (95% CI: 1.02503-2.3568) or MLA (p .0379). Conclusion The study suggests that the observed gene polymorphisms F2 (rs1799963), ABO (rs8176719), and F11 (rs2289252) may play a role as independent heritable risk factors in the development of CTEPH.https://doi.org/10.1177/10760296241271369 |
| spellingShingle | Jan Kvasnička MD, PhD Pavel Jansa MD, PhD Renata Cífková MD, PhD Daniela Dušková MD, PhD Petra Bobčíková MSc Martin Ševčík MSc, PhD Zuzana Zenáhlíková MD, PhD Tomáš Kvasnička MD, PhD The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension Clinical and Applied Thrombosis/Hemostasis |
| title | The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension |
| title_full | The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension |
| title_fullStr | The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension |
| title_full_unstemmed | The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension |
| title_short | The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension |
| title_sort | incidence of the thrombophilic snps rs6025 rs1799963 rs2066865 rs2289252 and rs8176719 in chronic thromboembolic pulmonary hypertension |
| url | https://doi.org/10.1177/10760296241271369 |
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