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Last Posted: Mar 23, 2023
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Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores.
Michael Chong et al. Nature genetics 2023 3 (3) 358-360

Current risk assessment and treatment strategies for venous thromboembolism (VTE) consider genetic factors only in a limited way. New work shows a more pervasive role of common variants in VTE risk, inspiring genetic predictors that surpass and complement individual clinical risk factors and monogenic thrombophilia testing.

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.
Ghouse Jonas et al. Nature genetics 2023 1

We report a genome-wide association study of venous thromboembolism (VTE) incorporating 81,190?cases and 1,419,671?controls sampled from six cohorts. We identify 93?risk loci, of which 62 are previously unreported. Many of the identified risk loci are at genes encoding proteins with functions converging on the coagulation cascade or platelet function. A VTE polygenic risk score (PRS) enabled effective identification of both high- and low-risk individuals.

Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.
Berry Alexander S F et al. JAMA 2023 1 (3) 235-243

In this retrospective multicohort study that included 642?544 adult participants, the incidence of a VTE diagnosis among those with an additional sex chromosome compared with those with 2 sex chromosomes was 1.3% per person-year compared with 0.25% per person-year, respectively, in one cohort, and 0.42% per person-year compared with 0.11% per person-year, respectively, in the other cohort. These differences were statistically significant.

Epidemiology and prevention of venous thromboembolism.
Lutsey Pamela L et al. Nature reviews. Cardiology 2022 10

Venous thromboembolism (VTE) surveillance systems are lacking, but VTE is estimated to affect one to two individuals per 1,000 person-years in Europe and the USA, with lower rates in other regions. Risk factors for VTE are varied, and include triggers (acute and subacute), basal risk factors (demographic, behavioural, anthropometric and genetic) and acquired clinical risk factors. Numerous complications can occur after a VTE event, and quality of life can decrease.

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