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CC BY 4.0 · TH Open 2021; 05(03): e303-e311
DOI: 10.1055/s-0041-1729626
Original Article

Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism in Northern and Southern European Populations

Eduardo Salas
1   Scientific Department, Gendiag, c/ Lepant, 141-4-1, 08013 Barcelona, Spain
,
Maria Farm
2   Institute for Molecular Medicine and Surgery and Department of Clinical Chemistry, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden
,
Sara Pich
1   Scientific Department, Gendiag, c/ Lepant, 141-4-1, 08013 Barcelona, Spain
,
Liselotte Onelöv
2   Institute for Molecular Medicine and Surgery and Department of Clinical Chemistry, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden
,
Kevin Guillen
1   Scientific Department, Gendiag, c/ Lepant, 141-4-1, 08013 Barcelona, Spain
,
Israel Ortega
1   Scientific Department, Gendiag, c/ Lepant, 141-4-1, 08013 Barcelona, Spain
,
Jovan P. Antovic
2   Institute for Molecular Medicine and Surgery and Department of Clinical Chemistry, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden
,
Jose Manuel Soria
3   Genomic of Complex Diseases, Institut d'Investigació Sant Pau (IIB-Sant Pau), Barcelona, Spain
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Abstract

Venous thromboembolism (VTE) is a complex, multifactorial problem, the development of which depends on a combination of genetic and acqfiguired risk factors. In a Spanish population, the Thrombo inCode score (or TiC score), which combines clinical and genetic risk components, was recently proven better at determining the risk of VTE than the commonly used model involving the analysis of two genetic variants associated with thrombophilia: the Factor V Leiden (F5 rs6025) and the G20210A prothrombin (F2 rs1799963).

The aim of the present case–control study was to validate the VTE risk predictive capacity of the TiC score in a Northern European population (from Sweden).

The study included 173 subjects with VTE and 196 controls. All were analyzed for the genetic risk variants included in the TiC gene panel. Standard measures —receiver operating characteristic (ROC) area under the curve (AUC), sensitivity, specificity, and odds ratio (OR)—were calculated.

The TiC score returned an AUC value of 0.673, a sensitivity of 72.25%, a specificity of 60.62%, and an OR of 4.11. These AUC, sensitivity, and OR values are all greater than those associated with the currently used combination of genetic variants. A TiC version adjusted for the allelic frequencies of the Swedish population significantly improved its AUC value (0.783).

In summary, the TiC score returned more reliable risk estimates for the studied Northern European population than did the analysis of the Factor V Leiden and the G20210A genetic variations in combination. Thus, the TiC score can be reliably used with European populations, despite differences in allelic frequencies.

Keywords

venous thromboembolism - genetic - risk score - primary prevention - anticoagulation - pulmonary embolism - deep vein thrombosis


Publikationsverlauf

Eingereicht: 09. September 2020

Angenommen: 01. März 2021

Artikel online veröffentlicht:
08. Juli 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
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