What you carry at this position in your DNA and what research says about it.
Arterial Health and SCAD Risk: 8/10 evidence, 32 publications.
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Sample genotype (not yours): G/G
Higher SCAD Risk but Lower Heart Attack Risk
Inheriting two copies of the G allele doubles the risk of spontaneous coronary artery dissection while lowering the likelihood of plaque-based coronary artery disease. It is also associated with higher susceptibility to migraines.
What this genotype means: ~2x higher risk of spontaneous coronary artery dissection; Lower risk of plaque-based coronary artery disease; Increased susceptibility to migraines.
Sample genotype (not yours): A/A
Higher Heart Attack Risk but Lower SCAD Risk
Two copies of the A allele elevate the risk of classical coronary artery disease, heart attacks, and diastolic blood pressure. However, this profile offers strong protection against spontaneous arterial tearing.
What this genotype means: ~1.13x higher risk of coronary artery disease; Elevated diastolic blood pressure and waist-hip ratio; Significantly lower risk of spontaneous coronary artery dissection.
Sample genotype (not yours): G/A
Typical Cardiovascular and Arterial Risk Profile
Carrying one G and one A allele results in intermediate, balanced risks for both spontaneous arterial tearing and classical atherosclerotic heart disease. Most physiological measurements remain near population averages.
What this genotype means: Average risk for spontaneous coronary artery dissection; Typical risk for atherosclerotic coronary artery disease; Balanced blood pressure and metabolic baselines.
Gene function and biological role
Gene Function: The genomic region on chromosome 21q22.11 lies within an intergenic space between LINC00310 and KCNE2, acting as a crucial regulatory hub for cardiovascular traits [1]. LINC00310 is a long non-coding RNA highly expressed in arterial tissues, where it plays a vital role in maintaining vascular wall integrity [2]. Nearby, KCNE2 encodes a potassium channel accessory subunit essential for normal cardiac electrical activity and rhythm regulation [1]. This locus also influences the expression of upstream genes like SLC5A3 and MRPS6 in aortic tissues, which are involved in osmotic stress response and mitochondrial translation respectively [1]. Together, these neighboring genes coordinate cellular responses that dictate arterial strength, blood pressure, and susceptibility to vascular remodeling.
Variant Impact: The intergenic variant rs28451064 acts as a functional expression quantitative trait locus (eQTL) that alters transcription factor binding and enhancer activity in vascular tissues [1]. Cellular assays demonstrate that the minor A allele exhibits altered protein binding and increases reporter gene expression compared to the G allele [1]. This genetic change has a highly pleiotropic impact, showing diametrically opposite association patterns for different cardiovascular conditions [3]. While one allele elevates the risk of classical atherosclerotic plaque buildup, the other predisposes the arterial wall to spontaneous tearing [3]. Consequently, this single nucleotide variation represents a pivotal genetic fork in determining overall arterial structure and disease predisposition.
Key Insight: This variant acts as a genetic trade-off where the allele that protects against common plaque-based heart disease simultaneously doubles the risk of spontaneous arterial tearing.
Location: KCNE2. Chromosome 21 · 21q22.11 · 34.2 Mb
Estimated prevalence by population
Global 83.0%; European 75.3%; African 95.2%; East Asian > 99.9%; South Asian 92.1%; Americas 85.0%; Ashkenazi 78.6%; Finnish 71.2%; Middle Eastern 87.5%; Amish 79.4%.
Estimated GG genotype frequency.
Global 15.9%; European 23.0%; African 4.8%; East Asian < 0.1%; South Asian 7.7%; Americas 14.4%; Ashkenazi 20.1%; Finnish 26.4%; Middle Eastern 12.1%; Amish 19.4%.
Estimated GA genotype frequency.
Global 1.1%; European 1.8%; African 0.1%; East Asian < 0.1%; South Asian 0.2%; Americas 0.6%; Ashkenazi 1.3%; Finnish 2.4%; Middle Eastern 0.4%; Amish 1.2%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Vascular Health & Aneurysm
Spontaneous Coronary Artery Dissection. Evidence: 6/10. Source: PMID 32374345. ~2x Higher Risk.
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 26343387. Lower Risk.
Heart Attack. Evidence: 8/10. Source: PMID 26343387. Lower Risk.
Hypertension
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 32632093. Typical Levels.
Obesity & Body Composition
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Typical Ratio.
Neurology & Mental Health
Headache & Migraine
Migraine. Evidence: 8/10. Source: PMID 32632093. Increased Risk.
Organ Systems
Bone, Joint & Connective Tissue Health
Bone Mineral Density. Evidence: 7/10. Source: PMID 30048462. Higher Density.
Showing effects for A/A genotype
Spontaneous Coronary Artery Dissection. Evidence: 6/10. Source: PMID 32374345. Lower Risk.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 26343387. ~1.13x Higher Risk.
Heart Attack. Evidence: 8/10. Source: PMID 26343387. ~1.12x Higher Risk.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 32632093. Elevated Levels.
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Higher Ratio.
Migraine. Evidence: 8/10. Source: PMID 32632093. Typical Risk.
Bone Mineral Density. Evidence: 7/10. Source: PMID 30048462. Lower Density.
Showing effects for G/A genotype
Spontaneous Coronary Artery Dissection. Evidence: 6/10. Source: PMID 32374345. Moderate Risk.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 26343387. Moderate Risk.
Heart Attack. Evidence: 8/10. Source: PMID 26343387. Moderate Risk.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 32632093. Slightly Elevated.
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Slightly Higher.
Migraine. Evidence: 8/10. Source: PMID 32632093. Moderate Risk.
Bone Mineral Density. Evidence: 7/10. Source: PMID 30048462. Typical Density.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
A double dose of the G allele creates a distinct cardiovascular profile characterized by a twofold increase in the risk of spontaneous coronary artery dissection (SCAD), a rare condition where an artery wall tears without warning [1]. This genetic predisposition is highly relevant because SCAD is a leading cause of heart attacks in young women and is often unrelated to traditional plaque buildup [1]. Conversely, this exact same genetic makeup provides a protective effect against classical atherosclerotic coronary artery disease and myocardial infarction [2]. Beyond direct heart health, there is a documented link to increased migraine susceptibility, which frequently co-occurs with non-atherosclerotic arterial conditions [3]. Higher heel bone mineral density is also observed, representing a positive systemic effect on skeletal strength [4]. Managing blood pressure and maintaining routine cardiovascular wellness are sensible strategies to support overall arterial integrity.
~2x higher risk of spontaneous coronary artery dissection; Lower risk of plaque-based coronary artery disease; Increased susceptibility to migraines.
Sample genotype: AA (Homozygous)
An homozygous A/A genotype is associated with a moderately elevated risk of developing traditional atherosclerotic coronary artery disease and experiencing a myocardial infarction [1]. This increased risk is often accompanied by higher diastolic blood pressure and a slightly elevated waist-to-hip ratio, which are key contributors to metabolic and cardiovascular strain [2] [3]. On the positive side, this genetic profile is highly protective against spontaneous coronary artery dissection, showing a significantly lower rate of non-atherosclerotic arterial tears [4]. Migraine susceptibility is also lower compared to those carrying the G allele, reflecting a reduced tendency toward certain vascular headaches [2]. Skeletal assessments indicate a slightly lower average heel bone mineral density, suggesting a minor increase in long-term osteoporosis risk [5]. Focusing on heart-healthy dietary habits, regular aerobic exercise, and routine blood pressure monitoring can help mitigate the elevated atherosclerotic risks associated with this genotype.
~1.13x higher risk of coronary artery disease; Elevated diastolic blood pressure and waist-hip ratio; Significantly lower risk of spontaneous coronary artery dissection.
Sample genotype: GA (Heterozygous)
Possessing a heterozygous genotype establishes a balanced intermediary state between two opposing cardiovascular risk profiles [1]. The risk of experiencing spontaneous coronary artery dissection is moderate, avoiding the doubled risk seen in G/G homozygotes [1]. Similarly, the susceptibility to classical atherosclerotic plaque buildup and subsequent heart attacks is kept at a typical baseline level [2]. Blood pressure measurements, including diastolic pressure and pulse pressure, generally align with standard population averages [3]. Metabolic indicators such as waist-to-hip ratio and body fat distribution also show no extreme genetic skew [4]. This balanced genetic background means that lifestyle factors, rather than a strong genetic bias, will play the dominant role in shaping long-term cardiovascular outcomes.
Average risk for spontaneous coronary artery dissection; Typical risk for atherosclerotic coronary artery disease; Balanced blood pressure and metabolic baselines.
Variants with shared genetic architecture
rs9982601 · KCNE2 Gene · Chr 21 · Heart Disease Risk
rs11172113 · LRP1 Gene · Chr 12 · Vascular Health
rs1800470 · TGFB1 Gene · Chr 19 · Cardiovascular Health
Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22.
Identification of Susceptibility Loci for Spontaneous Coronary Artery Dissection.
A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine.
Content updated August 2026.
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