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

Myocardial infarction (MI) remains a leading cause of morbidity and mortality worldwide, which can result in severe complications such as cardiac arrhythmia, heart failure, and sudden cardiac death. Genetic factors contribute to MI etiology and have been studied through genome-wide association studies (GWAS). This systematic review aims to summarize all GWAS of MI reporting single-nucleotide polymorphisms (SNPs) reaching genome-wide significance (p < 5 × 10^-8) and elucidate on their biological relevance and potential clinical utility. A systematic review following PRISMA guidelines was conducted using PubMed and the GWAS Catalog to identify eligible studies. This review included nine GWAS published between 2007 and 2023, conducted in both European and non-European cohorts. GWAS have identified multiple loci associated with MI, pinpointing potential biological pathways underlying MI, and potential therapeutic targets and enhancing risk prediction. Nonetheless, significant challenges remain, particularly the underrepresentation of diverse ancestries and the need for functional follow-up studies to define causal variants and clarify the mechanisms linking genetic variation to MI pathogenesis.