Unveiling Shared Genetic Links between Blood Cell Traits and Cardiovascular Diseases

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Abstract

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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