AI Article Synopsis
- Cardiometabolic diseases are complex disorders influenced by genetics, with 755 SNPs identified through genome-wide association studies that may contribute to understanding these diseases.
- Many of these SNPs are found in noncoding regions of DNA, making it challenging to connect them directly to disease mechanisms since they often don't affect protein function.
- Researchers are now focusing on linking genetic variations to gene expression changes by combining genetic data with expression and epigenetic information to identify potential disease genes and understand how these SNPs regulate them.
Article Abstract
Cardiometabolic diseases represent a common complex disorder with a strong genetic component. Currently, genome-wide association studies (GWAS) have yielded some 755 single-nucleotide polymorphisms (SNPs) encompassing 366 independent loci that may help to decipher the molecular basis of cardiometabolic diseases. Going from a disease SNP to the underlying disease mechanisms is a huge challenge because the associated SNPs rarely disrupt protein function. Many disease SNPs are located in noncoding regions, and therefore attention is now focused on linking genetic SNP variation to effects on gene expression levels. By integrating genetic information with large-scale gene expression data, and with data from epigenetic roadmaps revealing gene regulatory regions, we expect to be able to identify candidate disease genes and the regulatory potential of disease SNPs.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.tem.2015.10.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!