CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes.

ABSTRACT:

Background

Cardiovascular diseases (CVDs) are the leading cause of death worldwide. Genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) appearing in non-coding genomic regions in CVDs. The SNPs may alter gene expression by modifying transcription factor (TF) binding sites and lead to functional consequences in cardiovascular traits or diseases. To understand the underlying molecular mechanisms, it is crucial to identify which variations are involved and how they affect TF binding.

Methods

The SNEEP (SNP exploration and analysis using epigenomics data) pipeline was used to identify regulatory SNPs, which alter the binding behavior of TFs and link GWAS SNPs to their potential target genes for six CVDs. The human-induced pluripoten

SUBMITTER: Zhu C 

PROVIDER: S-EPMC10369730 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature