Publications by authors named "Sebastian Meric de Bellefon"
Article Synopsis
- Whole-genome sequencing (WGS) was used to analyze genetic variants associated with seven red blood cell (RBC) traits in a diverse group of 62,653 participants, revealing 14 novel variant-RBC trait associations.
- Many of these associations, particularly those linked to genes like RPN1 and PIEZO1, were found to be rare and more common in non-European ancestry populations.
- The study underscores the potential of WGS and gene editing techniques to enhance understanding of genetic factors influencing RBC traits and hereditary disorders.
Background: Genome-wide association studies (GWAS) have identified hundreds of loci associated with coronary artery disease (CAD) and blood pressure (BP) or hypertension. Many of these loci are not linked to traditional risk factors, nor do they include obvious candidate genes, complicating their functional characterization. We hypothesize that many GWAS loci associated with vascular diseases modulate endothelial functions.
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