A common polymorphism that protects from cardiovascular disease increases fibronectin processing and secretion

Abstract

Fibronectin (FN1) is an essential regulator of homodynamic processes and tissue remodeling which has been proposed to contribute to atherosclerosis. Moreover, recent large scale genome wide association studies have linked common genetic variants within the FN1 gene to coronary artery disease (CAD) risk. Genome-wide Association Studies (GWAS) have identified hundreds of common single nucleotide polymorphisms (SNPs) that associate with cardiovascular disease (CAD) risk 1–3 Although GWAS signals are enriched for expression quantitative trait loci (eQTLs) indicating measurable impacts on transcription, the identification of causal genes is challenging since 1) the vast majority of common trait related SNPs do not overlap protein coding genes and 2) are eQTLs for multiple genes 4,5 62 .