Genome-Wide Association Studies of Myocardial Infarction: A Systematic Literature Review

Area of Science:

• Genetics and Genomics
• Cardiovascular Disease Research
• Bioinformatics and Statistical Genetics

Background:

• Myocardial infarction (MI) is a major global health concern, causing significant morbidity and mortality.
• Genetic factors play a crucial role in the etiology of MI.
• Genome-wide association studies (GWAS) are instrumental in identifying genetic variants associated with complex diseases like MI.

Purpose of the Study:

• To systematically review all GWAS of MI that identified genome-wide significant single-nucleotide polymorphisms (SNPs).
• To elucidate the biological relevance of identified SNPs and their potential clinical utility in MI.
• To summarize advancements in understanding the genetic underpinnings of MI through GWAS.

Main Methods:

• Systematic review conducted following PRISMA guidelines.
• Literature search performed using PubMed and the GWAS Catalog.
• Included nine GWAS published between 2007 and 2023, encompassing diverse ancestral cohorts.

Main Results:

• Multiple genetic loci associated with MI have been identified through GWAS.
• These findings pinpoint potential biological pathways involved in MI pathogenesis.
• Identified genetic associations offer potential therapeutic targets and enhance MI risk prediction models.

Conclusions:

• GWAS have significantly advanced the understanding of MI's genetic architecture.
• Key challenges include the underrepresentation of diverse ancestries in current GWAS.
• Further functional studies are essential to define causal variants and elucidate mechanisms linking genetic variation to MI.