Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank

Abstract Both clinical and genetic factors drive the risk of venous thromboembolism. However, whether clinically recorded risk factors and genetic variants can be combined into a clinically applicable predictive score remains unknown. Using Cox proportional-hazard models, we analyzed the association...

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Autores principales:	David A. Kolin, Scott Kulm, Olivier Elemento
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/6be609cfb3614d65b0a91ab01c4fbf09
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spelling	oai:doaj.org-article:6be609cfb3614d65b0a91ab01c4fbf092021-11-08T10:54:35ZPrediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank10.1038/s41598-021-00796-42045-2322https://doaj.org/article/6be609cfb3614d65b0a91ab01c4fbf092021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-00796-4https://doaj.org/toc/2045-2322Abstract Both clinical and genetic factors drive the risk of venous thromboembolism. However, whether clinically recorded risk factors and genetic variants can be combined into a clinically applicable predictive score remains unknown. Using Cox proportional-hazard models, we analyzed the association of risk factors with the likelihood of venous thromboembolism in U.K. Biobank, a large prospective cohort. We then created a polygenic risk score of 36 single nucleotide polymorphisms and a clinical score determined by age, sex, body mass index, previous cancer diagnosis, smoking status, and fracture in the last 5 years. Participants were at significantly increased risk of venous thromboembolism if they were at high clinical risk (subhazard ratio, 4.37 [95% CI, 3.85–4.97]) or high genetic risk (subhazard ratio, 3.02 [95% CI, 2.63–3.47]) relative to participants at low clinical or genetic risk, respectively. The combined model, consisting of clinical and genetic components, was significantly better than either the clinical or the genetic model alone (P < 0.001). Participants at high risk in the combined score had nearly an eightfold increased risk of venous thromboembolism relative to participants at low risk (subhazard ratio, 7.51 [95% CI, 6.28–8.98]). This risk score can be used to guide decisions regarding venous thromboembolism prophylaxis, although external validation is needed.David A. KolinScott KulmOlivier ElementoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q David A. Kolin Scott Kulm Olivier Elemento Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank
description	Abstract Both clinical and genetic factors drive the risk of venous thromboembolism. However, whether clinically recorded risk factors and genetic variants can be combined into a clinically applicable predictive score remains unknown. Using Cox proportional-hazard models, we analyzed the association of risk factors with the likelihood of venous thromboembolism in U.K. Biobank, a large prospective cohort. We then created a polygenic risk score of 36 single nucleotide polymorphisms and a clinical score determined by age, sex, body mass index, previous cancer diagnosis, smoking status, and fracture in the last 5 years. Participants were at significantly increased risk of venous thromboembolism if they were at high clinical risk (subhazard ratio, 4.37 [95% CI, 3.85–4.97]) or high genetic risk (subhazard ratio, 3.02 [95% CI, 2.63–3.47]) relative to participants at low clinical or genetic risk, respectively. The combined model, consisting of clinical and genetic components, was significantly better than either the clinical or the genetic model alone (P < 0.001). Participants at high risk in the combined score had nearly an eightfold increased risk of venous thromboembolism relative to participants at low risk (subhazard ratio, 7.51 [95% CI, 6.28–8.98]). This risk score can be used to guide decisions regarding venous thromboembolism prophylaxis, although external validation is needed.
format	article
author	David A. Kolin Scott Kulm Olivier Elemento
author_facet	David A. Kolin Scott Kulm Olivier Elemento
author_sort	David A. Kolin
title	Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank
title_short	Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank
title_full	Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank
title_fullStr	Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank
title_full_unstemmed	Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank
title_sort	prediction of primary venous thromboembolism based on clinical and genetic factors within the u.k. biobank
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/6be609cfb3614d65b0a91ab01c4fbf09
work_keys_str_mv	AT davidakolin predictionofprimaryvenousthromboembolismbasedonclinicalandgeneticfactorswithintheukbiobank AT scottkulm predictionofprimaryvenousthromboembolismbasedonclinicalandgeneticfactorswithintheukbiobank AT olivierelemento predictionofprimaryvenousthromboembolismbasedonclinicalandgeneticfactorswithintheukbiobank
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Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank

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