Key result
Blood cell traits and cardiovascular diseases share extensive pleiotropy across ~13,700 genetic loci.
Why the study?
Previous studies linked blood cell traits to cardiovascular disease risk, but the shared genetic mechanisms underlying these heritable phenotypes remained unclear.
Observational
This study identifies shared genetic loci, pathways, and potential therapeutic targets linking blood cell traits to cardiovascular diseases, which may inform future preventive clinical interventions.
Answers are grounded in this paper and cite their sources.
Shared BCT-CVD genetic links merit deeper mechanistic study; leaves clinical utility and risk stratification open.
Previous studies have linked blood cell traits (BCTs) to cardiovascular diseases (CVDs) risks, but the common genetic mechanisms underlying heritable phenotypes remain unclear. Our study used multiple analytical approaches including single nucleotide polymorphisms, genes, pathways, and protein targets to reveal common genetic elements. We confirmed both genome-wide and local genetic associations between BCTs and CVDs, identifying key pleiotropic loci and genes contributing to these links. Specifically, ALDH2, MAPKAPK5, and ACAD10, all located at 12q24.1, are associated with leukocyte-CVD traits. TNFSF12 at 17p13.1 and ABO at 9q34.2 correlate with platelet-CVD traits, while ZNF664 and CCDC92, also at 12q24.1, are linked to erythrocyte-CVD traits. Our findings also highlight multiple key trait-specific pathways mediating these phenotypic associations and potential therapeutic targets that may inform future clinical interventions. These insights significantly advance our understanding of the genetic interplay between BCTs and CVDs, underscoring the importance of focusing on BCTs to prevent cardiovascular conditions.
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Kong et al. (2024) conducted an observational in Cardiovascular diseases and blood cell traits. Blood cell traits (29 traits including leukocyte, platelet, and erythrocyte parameters) was evaluated on Shared genetic architecture and pleiotropic variants between 29 blood cell traits and 6 major cardiovascular diseases (p=<5e-8). Blood cell traits and cardiovascular diseases share 571,782 pleiotropic SNPs across 13,697 loci and 36 significant genome-wide genetic correlations (p<0.05) across 174 trait pairs.
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