Posted: Dec 06, 2023
Lipoprotein(a), platelet function and cardiovascular disease.
Harpreet S Bhatia et al. Nat Rev Cardiol 2023 11
From the abstract: " Lipoprotein(a) (Lp(a)) independently contributes to atherothrombosis through several mechanisms, including putative antifibrinolytic properties. However, genetic association studies and experimental studies have not demonstrated an association between high Lp(a) levels in the plasma and the risk of venous thromboembolism or clot properties, respectively."
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.