Coronary Artery Disease & Atherosclerosis

Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk in Asian populations

Intronic IL6R variant in LD with the IL-6 receptor signaling locus; G allele associates with increased atrial fibrillation risk

Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363) allele is protective against coronary artery disease (OR 0.90, p=2.4×10⁻¹⁷)

3' UTR variant in the type 1 deiodinase gene associated with markedly increased cardiac mortality after myocardial infarction

Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg higher blood pressure than A-allele carriers due to reduced sympathetic dampening.

Regulatory variant that increases sortilin expression, lowering LDL cholesterol and cardiovascular risk

Intronic MRAS variant that creates a MEF2 transcription factor binding site in vascular smooth muscle cells, increasing MRAS expression and promoting the pro-atherogenic synthetic phenotype switch linked to coronary artery disease

9p21 locus variant in the ANRIL long non-coding RNA gene associated with intracranial aneurysm and coronary artery disease, with the T allele increasing arterial disease risk across multiple vascular beds

Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility region for coronary artery disease and periodontitis; the C allele elevates inflammatory signaling through ANRIL dysregulation and increases susceptibility to aggressive and chronic periodontitis

Intronic variant in the adiponectin gene that influences circulating adiponectin levels, insulin sensitivity, and metabolic response to diet; the T allele is associated with lower adiponectin and higher insulin resistance

Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascular smooth muscle cell regulation and variable coronary artery disease risk across populations

Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T allele reduces circulating CXCL12 chemokine levels and confers protection against coronary artery disease

Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smooth muscle cell behavior, with well-replicated association with coronary artery disease risk

Intronic regulatory variant modulating FURIN expression via allele-specific DNA methylation, associated with coronary artery disease risk and blood pressure through macrophage and endothelial cell mechanisms

Missense variant in the MMP9 fibronectin type II domain affecting matrix metalloproteinase-9 substrate binding; the A allele (Gln279) is associated with altered plaque remodeling dynamics, increased intracranial atherosclerotic stenosis risk, and higher ischemic stroke susceptibility compared with the Arg279 (G allele) form

Missense variant in kinesin family member 6; the Arg allele was associated with elevated coronary heart disease risk and with substantially greater benefit from statin therapy in the CARE, WOSCOPS, PROSPER, and PROVE IT-TIMI 22 trials, though a large meta-analysis of 19 case-control studies found no independent CAD risk association

Missense variant in the ABCG2 transporter that impairs membrane localization and alters efflux of drugs, porphyrins, and urate, with the T allele associated with reduced transporter activity in some cell models

Missense variant in sorting nexin 19; the A allele was associated with elevated coronary heart disease risk in a prospective cohort study and confirmed as one of five common risk variants in the ARIC validation

Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing blood pressure, CAD risk, platelet count, and susceptibility to autoimmune diseases

Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allele is one of the strongest known genetic risk factors for exfoliation syndrome and exfoliation glaucoma, a leading cause of secondary glaucoma worldwide

Intronic variant in TNFSF4 (OX40 ligand); homozygous G carriers show approximately 2-fold increased myocardial infarction risk in some populations

Promoter variant that disrupts an SP1 transcription factor binding site, increasing MMP-9 expression in vascular tissue; the T allele is associated with elevated plaque instability, higher risk of myocardial infarction, and increased ischemic stroke risk, particularly in Asian populations

Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala (rs2228145) coding change; the C allele tags a haplotype associated with elevated CRP, LDL, and ApoB and with reduced protection from coronary heart disease risk

Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tissue via FOXA binding; the A allele reduces BCAR1 levels and is associated with lower carotid intima-media thickness progression and reduced coronary artery disease risk, with the protective effect strongest in women

9p21.3 CAD risk signal in ANRIL; G allele elevates coronary artery disease risk ~30% per allele and is specifically amplified by sugar-sweetened beverage intake

Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevated plasma CXCL12 levels and increased coronary artery disease risk in European GWAS and replication cohorts

Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allele reduces SMAD3 enhancer activity in arterial smooth muscle cells, lowering TGF-beta-driven vascular remodeling and coronary artery disease risk

Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with increased coronary artery disease risk and post-ACS cardiovascular mortality through impaired one-carbon unit supply

Intronic variant near the BOLL gene associated with increased intracranial aneurysm susceptibility, replicated across European, Japanese, and Korean populations.

Intronic variant in DAB2IP associated with increased risk of abdominal aortic aneurysm, myocardial infarction, and peripheral arterial disease

Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile and adult-onset open-angle glaucoma through trabecular meshwork dysfunction and elevated intraocular pressure

Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with altered connective tissue integrity and elevated varicose vein risk.

Intronic TSPAN15 variant; the C allele is associated with a 31% increased risk of venous thromboembolism

3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increased coronary artery disease risk through altered vascular smooth muscle cell signaling