Cardiovascular disease-associated non-coding variants disrupt GATA4-DNA binding and regulatory functions.

ABSTRACT: Genome-wide association studies have identified thousands of cardiovascular disease (CVD)-associated variants, with over 90% of them being mapped within the non-coding genome. Non-coding variants in regulatory regions of the genome, such as promoters, enhancers, silencers, and insulators, can alter the function of tissue-specific transcription factors (TFs) and their gene regulatory function. In this work, we used a computational approach to identify and test CVD-associated single-nucleotide polymorphisms (SNPs) that alter the DNA binding of the human cardiac transcription factor GATA4. Using a gapped k-mer support vector machine (GKM SVM) model, we scored CVD-associated SNPs localized in gene regulatory elements in expression quantitative trait loci (eQTL) detected in cardiac tissue to id

SUBMITTER: Pena-Martinez EG 

PROVIDER: S-EPMC11930153 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature