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

**Authors:** Isabelle P. Thierry, Reza Jabbari, Thomas Engstrøm, Jacob Tfelt-Hansen, Charlotte Glinge

PMC · DOI: 10.3390/jcdd13030127 · Journal of Cardiovascular Development and Disease · 2026-03-10

## TL;DR

This review summarizes genome-wide studies on heart attacks, highlighting genetic links and the need for more diverse research.

## Contribution

A comprehensive summary of genome-wide significant SNPs for MI and their biological implications.

## Key findings

- Nine GWAS identified multiple loci associated with myocardial infarction.
- Genetic studies highlight potential therapeutic targets and improve risk prediction.
- Diverse ancestry representation and functional follow-up studies are lacking.

## Abstract

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.

## Linked entities

- **Diseases:** myocardial infarction (MONDO:0005068), heart failure (MONDO:0005252), sudden cardiac death (MONDO:0007264)

## Full-text entities

- **Genes:** LPA (lipoprotein(a)) [NCBI Gene 4018] {aka AK38, APOA, LP}, PCSK9 (proprotein convertase subtilisin/kexin type 9) [NCBI Gene 255738] {aka FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1}, CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2) [NCBI Gene 1952] {aka ADGRC2, CDHF10, EGFL2, Flamingo1, MEGF3}, CDKN2B-AS1 (CDKN2B and CDKN2A antisense cis and trans regulatory RNA 1) [NCBI Gene 100048912] {aka 66CTG, ANRIL, CDKN2B-AS, CDKN2BAS, NCRNA00089, PCAT12}, KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2) [NCBI Gene 9992] {aka ATFB4, LQT5, LQT6, MIRP1}, ATP2B1 (ATPase plasma membrane Ca2+ transporting 1) [NCBI Gene 490] {aka MRD66, PMCA1, PMCA1kb}, ATXN2 (ataxin 2) [NCBI Gene 6311] {aka ATX2, SCA2, TNRC13}, APOB (apolipoprotein B) [NCBI Gene 338] {aka FCHL2, FLDB, LDLCQ4, apoB-100, apoB-48}, ARHGAP42 (Rho GTPase activating protein 42) [NCBI Gene 143872] {aka AD031, GRAF3, TMEM133}, IL6 (interleukin 6) [NCBI Gene 3569] {aka BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2}, CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029] {aka ARF, CAI2, CDK4I, CDKN2, CMM2, INK4}, ADAM10 (ADAM metallopeptidase domain 10) [NCBI Gene 102] {aka AD10, AD18, CD156c, CDw156, HsT18717, MADM}, ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) [NCBI Gene 28] {aka A3GALNT, A3GALT1, GTA, GTB, NAGAT}, NOS3 (nitric oxide synthase 3) [NCBI Gene 4846] {aka EC-NOS, ECNOS, MYMY8, NOSIII, cNOS, eNOS}, INS (insulin) [NCBI Gene 3630] {aka IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10}, IL1B (interleukin 1 beta) [NCBI Gene 3553] {aka IL-1, IL1-BETA, IL1F2, IL1beta}, PHACTR1 (phosphatase and actin regulator 1) [NCBI Gene 221692] {aka DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2}, ALDH2 (aldehyde dehydrogenase 2 family member) [NCBI Gene 217] {aka ALDH-E2, ALDHI, ALDM}, SORT1 (sortilin 1) [NCBI Gene 6272] {aka Gp95, LDLCQ6, NT3, NTR3}, QKI (QKI, KH domain containing RNA binding) [NCBI Gene 9444] {aka Hqk, QK, QK1, QK3, hqkI}, THADA (THADA armadillo repeat containing) [NCBI Gene 63892] {aka ARMC13, GITA, Trm732}, CDKN2B (cyclin dependent kinase inhibitor 2B) [NCBI Gene 1030] {aka CDK4I, INK4B, MTS2, P15, TP15, p15INK4b}, IL6R (interleukin 6 receptor) [NCBI Gene 3570] {aka CD126, HIES5, IL-1Ra, IL-6R, IL-6R-1, IL-6RA}, APOE (apolipoprotein E) [NCBI Gene 348] {aka AD2, APO-E, ApoE4, LDLCQ5, LPG}, LDLR (low density lipoprotein receptor) [NCBI Gene 3949] {aka LDLCQ2}, ADAMTS7 (ADAM metallopeptidase with thrombospondin type 1 motif 7) [NCBI Gene 11173] {aka ADAM-TS 7, ADAM-TS7, ADAMTS-7}, SLC44A3 (solute carrier family 44 member 3) [NCBI Gene 126969] {aka CTL3}
- **Diseases:** long-QT syndrome (MESH:D008133), drug and alcohol abuse (MESH:D019966), stable angina (MESH:D060050), cardiovascular disease (MESH:D002318), atherosclerotic formation (MESH:D058426), atopic (MESH:C566404), rheumatoid arthritis (MESH:D001172), hyperthyroidism (MESH:D006980), CAD (MESH:D003324), Diabetes (MESH:D003920), Atherosclerosis (MESH:D050197), chronic obstructive pulmonary disease (MESH:D029424), pollinosis (MESH:D006255), injury to (MESH:D014947), unstable angina (MESH:D000789), Acute Coronary Events (MESH:D054058), lung cancer (MESH:D008175), death (MESH:D003643), infarct (MESH:D007238), breast cancer (MESH:D001943), osteoporosis (MESH:D010024), heart failure (MESH:D006333), Hypertension (MESH:D006973), familial hypercholesterolemia (MESH:D006938), asthma (MESH:D001249), endothelial dysfunction (MESH:D014652), arrhythmia (MESH:D001145), thrombosis (MESH:D013927), chronic inflammation (MESH:D007249), heart valvular diseases (MESH:D006349), myocardial ischemia (MESH:D017202), coronary stenosis (MESH:D023921), monogenic disorder (MESH:D009358), MI (MESH:D009203), atrial fibrillation (MESH:D001281), sudden cardiac death (MESH:D016757), coronary heart disease (MESH:D003327), tumor (MESH:D009369)
- **Chemicals:** lipid (MESH:D008055), Tocilizumab (MESH:C502936), cholesterol (MESH:D002784)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs9982601, rs10757278, rs6941513, rs928758, rs368803408, rs28451064

## Full text

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## References

77 references — full list in the complete paper: https://tomesphere.com/paper/PMC13026161/full.md

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Source: https://tomesphere.com/paper/PMC13026161