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Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism
Introduction: Venous thromboembolism (VTE), including deep vein thrombosis (DVT) and/or pulmonary embolism (PE), is a common, acute, multifactorial disease with a five-years cumulative incidence of recurrence of approximately 25%. Actually, no single genetic defect can predict the risk of recurrence...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230078/ https://www.ncbi.nlm.nih.gov/pubmed/34200207 http://dx.doi.org/10.3390/genes12060874 |
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author | Hodeib, Hossam Youssef, Amira Allam, Alzahraa A. Selim, Amal Tawfik, Mohamed A. Abosamak, Mohammed F. Esam, Ahmed Abd Elghafar, Mohamed S. Samir, Sameh ELshora, Ola A. |
author_facet | Hodeib, Hossam Youssef, Amira Allam, Alzahraa A. Selim, Amal Tawfik, Mohamed A. Abosamak, Mohammed F. Esam, Ahmed Abd Elghafar, Mohamed S. Samir, Sameh ELshora, Ola A. |
author_sort | Hodeib, Hossam |
collection | PubMed |
description | Introduction: Venous thromboembolism (VTE), including deep vein thrombosis (DVT) and/or pulmonary embolism (PE), is a common, acute, multifactorial disease with a five-years cumulative incidence of recurrence of approximately 25%. Actually, no single genetic defect can predict the risk of recurrence of VTE. Therefore, individual genetic risk profiling could be useful for the prediction of VTE recurrence. Aim of the study: To assess the combined effect of the common prothrombotic genotypes on the risk of recurrence of VTE in recently diagnosed unprovoked VTE patients. Patients and methods: This population based, prospective follow-up study was carried out from January 2015 to December 2020 in (internal medicine, cardiovascular medicine and anesthesia and ICU departments, Tanta University Hospital, Egypt) on 224 recently diagnosed unprovoked VTE patients. Whole blood was collected by standard venipuncture at the time of admission prior to the beginning of anticoagulant therapy. Genomic DNA was extracted and was genotyped for the 5-SNPs Genetic risk score (GRS), previously validated for first venous thrombosis (FVL rs6025, PTM rs1799963, ABO rs8176719, FGG rs2066865 and FXI rs2036914). Results: The main important finding in the present study was that patients having ≥3 risk alleles were associated with higher risk of VTE recurrence compared to those having ≤2 risk alleles (the reference group) (HR 2.5, 95% CI 1.48–4.21) (p = 0.001). Patients with GRS ≥ 3 had a significantly shorter time recurrence free survival (43.07 months) compared to the low risk group of patients with GRS (0–2) (p < 0.001). Conclusion: GRS model could be an effective and useful model in risk stratification of VTE patients, and genetic risk profiling of VTE patients could be used for the prediction of recurrence of VTE. |
format | Online Article Text |
id | pubmed-8230078 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-82300782021-06-26 Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism Hodeib, Hossam Youssef, Amira Allam, Alzahraa A. Selim, Amal Tawfik, Mohamed A. Abosamak, Mohammed F. Esam, Ahmed Abd Elghafar, Mohamed S. Samir, Sameh ELshora, Ola A. Genes (Basel) Article Introduction: Venous thromboembolism (VTE), including deep vein thrombosis (DVT) and/or pulmonary embolism (PE), is a common, acute, multifactorial disease with a five-years cumulative incidence of recurrence of approximately 25%. Actually, no single genetic defect can predict the risk of recurrence of VTE. Therefore, individual genetic risk profiling could be useful for the prediction of VTE recurrence. Aim of the study: To assess the combined effect of the common prothrombotic genotypes on the risk of recurrence of VTE in recently diagnosed unprovoked VTE patients. Patients and methods: This population based, prospective follow-up study was carried out from January 2015 to December 2020 in (internal medicine, cardiovascular medicine and anesthesia and ICU departments, Tanta University Hospital, Egypt) on 224 recently diagnosed unprovoked VTE patients. Whole blood was collected by standard venipuncture at the time of admission prior to the beginning of anticoagulant therapy. Genomic DNA was extracted and was genotyped for the 5-SNPs Genetic risk score (GRS), previously validated for first venous thrombosis (FVL rs6025, PTM rs1799963, ABO rs8176719, FGG rs2066865 and FXI rs2036914). Results: The main important finding in the present study was that patients having ≥3 risk alleles were associated with higher risk of VTE recurrence compared to those having ≤2 risk alleles (the reference group) (HR 2.5, 95% CI 1.48–4.21) (p = 0.001). Patients with GRS ≥ 3 had a significantly shorter time recurrence free survival (43.07 months) compared to the low risk group of patients with GRS (0–2) (p < 0.001). Conclusion: GRS model could be an effective and useful model in risk stratification of VTE patients, and genetic risk profiling of VTE patients could be used for the prediction of recurrence of VTE. MDPI 2021-06-07 /pmc/articles/PMC8230078/ /pubmed/34200207 http://dx.doi.org/10.3390/genes12060874 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Hodeib, Hossam Youssef, Amira Allam, Alzahraa A. Selim, Amal Tawfik, Mohamed A. Abosamak, Mohammed F. Esam, Ahmed Abd Elghafar, Mohamed S. Samir, Sameh ELshora, Ola A. Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism |
title | Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism |
title_full | Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism |
title_fullStr | Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism |
title_full_unstemmed | Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism |
title_short | Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism |
title_sort | genetic risk profiling associated with recurrent unprovoked venous thromboembolism |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230078/ https://www.ncbi.nlm.nih.gov/pubmed/34200207 http://dx.doi.org/10.3390/genes12060874 |
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