Strategies beyond genome-wide association studies for atherosclerosis

Area of Science:

• Cardiovascular Genetics
• Genomics and Bioinformatics
• Translational Medicine

Background:

• Atherosclerotic diseases, including coronary artery disease (CAD) and myocardial infarction (MI), represent a significant global health burden as leading causes of mortality.
• The complex genetic architecture of CAD and MI, influenced by multiple genetic and environmental factors, is increasingly elucidated through large-scale genomic studies.
• Genome-wide association studies (GWASs) have been instrumental in identifying numerous genetic loci associated with susceptibility to these conditions.

Purpose of the Study:

• To summarize recent findings from GWASs related to atherosclerosis.
• To discuss the functional and biological implications of identified genetic variants.
• To explore post-GWAS strategies for variant refinement, mechanistic understanding, and clinical translation.

Main Methods:

• Review of recent genome-wide association studies (GWASs) on atherosclerosis.
• Analysis of functional and biological implications of identified genetic loci.
• Discussion of post-GWAS methodologies for variant fine-mapping and mechanistic studies.

Main Results:

• GWASs have identified multiple new susceptibility loci for coronary artery disease (CAD) and myocardial infarction (MI).
• These identified genes offer novel insights into the genetic architecture and underlying molecular mechanisms of atherosclerosis.
• Various post-GWAS strategies are being employed to pinpoint causal variants and elucidate their biological roles.

Conclusions:

• Recent GWAS findings significantly advance our understanding of the genetic basis of atherosclerosis.
• Functional studies and post-GWAS analyses are crucial for interpreting genetic associations and uncovering disease mechanisms.
• Translational potential exists for GWAS findings in individual risk prediction, clinical strategies, and personalized medicine for atherosclerotic diseases.