Myocardial infarction: genes and variants

Genes linked to Myocardial infarction

• F7: Coagulation factor VII

  It binds tissue factor at sites of vascular injury and initiates coagulation by activating factors IX and X. Biallelic deficiency causes a rare bleeding disorder with highly variable severity, while recombinant activated factor VII is used therapeutically in selected bleeding conditions.

  5 disease-causing and 0 uncertain variants in F7 are linked to Myocardial infarction.

• ITGB3: Integrin beta-3

  In platelets it pairs with ITGA2B to bind fibrinogen and mediate aggregation, while in other cells it forms integrins involved in matrix adhesion and signaling. Biallelic loss-of-function variants cause Glanzmann thrombasthenia.

  0 disease-causing and 2 uncertain variants in ITGB3 are linked to Myocardial infarction.

• ACE: Angiotensin-converting enzyme

  A membrane-associated enzyme that removes terminal dipeptides from hormones and signaling peptides, including angiotensin I and bradykinin. By generating angiotensin II and inactivating vasodilators, it helps regulate blood pressure, fluid balance, and aspects of nervous-system signaling.

  0 disease-causing and 0 uncertain variants in ACE are linked to Myocardial infarction.

• AGTR1: Type-1 angiotensin II receptor

  Its activation by angiotensin II promotes vasoconstriction, aldosterone release, sodium retention, and vascular remodeling. Excessive signaling contributes to hypertension and cardiovascular disease, and the pathway is therapeutically blocked by angiotensin-receptor blockers.

  0 disease-causing and 0 uncertain variants in AGTR1 are linked to Myocardial infarction.

• APOA5: Apolipoprotein A-V

  It strongly modulates plasma triglyceride levels by promoting efficient clearance of triglyceride-rich lipoproteins. Rare loss-of-function variants can cause severe hypertriglyceridemia and increase susceptibility to familial chylomicronemia-like phenotypes and pancreatitis.

  0 disease-causing and 0 uncertain variants in APOA5 are linked to Myocardial infarction.

• APOB: Apolipoprotein B-100

  It provides the structural backbone for triglyceride-rich lipoproteins and LDL, while ApoB-100 also mediates LDL-receptor binding and clearance. Pathogenic variants can cause familial hypobetalipoproteinemia or defective ApoB-related hypercholesterolemia depending on their effect on particle assembly and receptor binding.

  0 disease-causing and 0 uncertain variants in APOB are linked to Myocardial infarction.

• APOE: Apolipoprotein E

  It redistributes cholesterol and other lipids between tissues by directing remnant lipoproteins to LDL-receptor-family members. The common epsilon4 isoform strongly increases late-onset Alzheimer disease risk and also influences plasma lipids and cardiovascular risk.

  0 disease-causing and 0 uncertain variants in APOE are linked to Myocardial infarction.

• CACNA1C: Voltage-dependent L-type calcium channel subunit alpha-1C

  Its opening provides a major source of depolarization-triggered calcium entry in cardiomyocytes, smooth muscle, and neurons, coupling electrical activity to contraction and signaling. Pathogenic variants can cause Timothy syndrome, Brugada or long-QT phenotypes, and several neurodevelopmental disorders.

  0 disease-causing and 0 uncertain variants in CACNA1C are linked to Myocardial infarction.

• CACNA1D: Voltage-dependent L-type calcium channel subunit alpha-1D

  It supports calcium entry in endocrine cells, neurons, and cardiac pacemaker tissue, influencing hormone secretion, neuronal excitability, and sinoatrial activity. Activating variants can cause primary aldosteronism with seizures and neurologic abnormalities, while other variants cause neurodevelopmental or hearing phenotypes.

  0 disease-causing and 0 uncertain variants in CACNA1D are linked to Myocardial infarction.

• CACNA1S: Voltage-dependent L-type calcium channel subunit alpha-1S

  Its voltage sensing in skeletal-muscle transverse tubules mechanically activates RYR1 and couples membrane depolarization to sarcoplasmic-reticulum calcium release. Pathogenic variants can cause hypokalemic periodic paralysis, malignant-hyperthermia susceptibility, and congenital myopathy.

  0 disease-causing and 0 uncertain variants in CACNA1S are linked to Myocardial infarction.

• HMGCR: 3-hydroxy-3-methylglutaryl-coenzyme A reductase

  It controls the rate-limiting step of the mevalonate pathway and therefore strongly regulates endogenous cholesterol production. Statins lower LDL cholesterol by inhibiting this activity, causing the liver to increase LDL-receptor-mediated clearance from blood.

  0 disease-causing and 0 uncertain variants in HMGCR are linked to Myocardial infarction.

• ITGA2B: Integrin alpha-IIb

  Together with ITGB3, it forms the major platelet fibrinogen receptor that becomes activated during platelet stimulation and drives aggregation. Biallelic loss-of-function variants cause Glanzmann thrombasthenia, a severe inherited platelet-aggregation disorder.

  0 disease-causing and 0 uncertain variants in ITGA2B are linked to Myocardial infarction.

• LDLR: Low-density lipoprotein receptor

  It removes ApoB-containing LDL particles from the circulation through receptor-mediated endocytosis, especially in hepatocytes. Loss-of-function variants are the most common cause of familial hypercholesterolemia and lead to lifelong LDL elevation and premature atherosclerotic disease.

  0 disease-causing and 0 uncertain variants in LDLR are linked to Myocardial infarction.

• LPA: Apolipoprotein(a)

  Its apolipoprotein(a) component covalently attaches to an LDL-like particle to form lipoprotein(a), whose circulating level is largely genetically determined. High Lp(a) is a causal risk factor for atherosclerotic cardiovascular disease and calcific aortic-valve disease.

  0 disease-causing and 0 uncertain variants in LPA are linked to Myocardial infarction.

• LPL: Lipoprotein lipase

  It hydrolyzes triglycerides in circulating chylomicrons and very-low-density lipoproteins so tissues can take up released fatty acids. Severe biallelic loss causes familial chylomicronemia, while common variation strongly influences triglyceride levels and cardiovascular risk.

  0 disease-causing and 0 uncertain variants in LPL are linked to Myocardial infarction.

• PCSK9: Proprotein convertase subtilisin/kexin type 9

  By binding hepatic LDL receptors and promoting their lysosomal degradation, it reduces receptor recycling and raises circulating LDL cholesterol. Gain-of-function variants cause autosomal dominant hypercholesterolemia, whereas loss-of-function variants lower LDL cholesterol and cardiovascular risk.

  0 disease-causing and 0 uncertain variants in PCSK9 are linked to Myocardial infarction.

• PLAT: Tissue-type plasminogen activator

  It converts plasminogen to plasmin preferentially on fibrin surfaces, promoting breakdown of established blood clots. Recombinant tissue plasminogen activator is used therapeutically for selected acute ischemic strokes and thrombotic emergencies, balanced against bleeding risk.

  0 disease-causing and 0 uncertain variants in PLAT are linked to Myocardial infarction.

• SERPINC1: Antithrombin-III

  It neutralizes thrombin and several activated coagulation proteases and is greatly accelerated by heparin-like molecules. Heterozygous deficiency causes a strong inherited predisposition to venous thrombosis and can reduce responsiveness to heparin.

  0 disease-causing and 0 uncertain variants in SERPINC1 are linked to Myocardial infarction.

• SH2B3: SH2B adapter protein 3

  It restrains cytokine and growth-factor signaling in hematopoietic cells, including JAK-STAT pathways controlling blood-cell production. Loss-of-function variants can increase blood-cell proliferation and predispose to myeloproliferative neoplasms, while common variants influence autoimmune and hematologic traits.

  0 disease-causing and 0 uncertain variants in SH2B3 are linked to Myocardial infarction.

• SLC12A3: Solute carrier family 12 member 3

  It reabsorbs sodium and chloride in the distal convoluted tubule and is a major determinant of renal salt and magnesium handling. Biallelic loss-of-function variants cause Gitelman syndrome with hypokalemic metabolic alkalosis, hypomagnesemia, and low urinary calcium.

  0 disease-causing and 0 uncertain variants in SLC12A3 are linked to Myocardial infarction.

• TUBB2B: Tubulin beta-2B chain

  It contributes to neuronal microtubules needed for progenitor division, neuronal migration, axon development, and cortical organization. Heterozygous pathogenic variants cause tubulinopathy with polymicrogyria, cortical dysplasia, developmental delay, and sometimes epilepsy.

  0 disease-causing and 0 uncertain variants in TUBB2B are linked to Myocardial infarction.

• TUBB3: Tubulin beta-3 chain

  It forms neuronal microtubules required for axon growth, guidance, and intracellular transport. Heterozygous pathogenic variants can cause congenital fibrosis of the extraocular muscles type 3 and broader tubulinopathy phenotypes with brain and cranial-nerve abnormalities.

  0 disease-causing and 0 uncertain variants in TUBB3 are linked to Myocardial infarction.

• VKORC1: Vitamin K epoxide reductase complex subunit 1

  It recycles vitamin K to support gamma-carboxylation of coagulation proteins and is the direct pharmacologic target of warfarin. Common variants strongly influence warfarin dose requirements, while rare variants can cause warfarin resistance or vitamin-K-dependent clotting-factor deficiency.

  0 disease-causing and 0 uncertain variants in VKORC1 are linked to Myocardial infarction.

Weakly linked (only a few uncertain records): F13A1 and CLCN1.

Where Myocardial infarction variants cluster

• F7 Peptidase S1 (positions 213–452): 5 of 5 disease-causing changes, 1.9× more than its size predicts.

Known disease-causing variants in Myocardial infarction

Same protein, different disease

• Factor VII deficiency is also caused by F7 variants; they fall mostly in different places as the Myocardial infarction variants (8 disease-causing).

Diseases related to Myocardial infarction

• Diabetes mellitus, also linked to ACE, AGTR1, APOE, CACNA1C and 2 more
• Familial hypercholesterolemia, also linked to APOB, APOE, HMGCR, LDLR and 1 more
• Type 2 diabetes mellitus, also linked to ACE, AGTR1, APOE, HMGCR and 1 more
• Hyperlipoproteinemia, also linked to APOA5, APOE, HMGCR and LPL
• Hypercholesterolemia, familial, 1, also linked to APOB, LDLR and PCSK9
• Alzheimer disease, also linked to ACE, APOE and HMGCR
• Homozygous familial hypercholesterolemia, also linked to APOB, LDLR and PCSK9
• Epilepsy, also linked to CACNA1C, CACNA1D and CACNA1S
• Hypertrophic cardiomyopathy, also linked to ITGA2B and ITGB3
• Noonan syndrome, also linked to ITGA2B and ITGB3
• Glanzmann thrombasthenia, also linked to ITGA2B and ITGB3
• Complex cortical dysplasia with other brain malformations 7, also linked to TUBB2B and TUBB3

Frequently asked questions

Which genes are linked to Myocardial infarction?

In CATVariant, Myocardial infarction is linked to 23 analyzed proteins: F7 (Coagulation factor VII), ITGB3 (Integrin beta-3), ACE (Angiotensin-converting enzyme), AGTR1 (Type-1 angiotensin II receptor), APOA5 (Apolipoprotein A-V), APOB (Apolipoprotein B-100) and 17 more.

How many genetic variants are linked to Myocardial infarction?

10 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.

Which uncertain variants in Myocardial infarction look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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