What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 8/10 evidence, 12 publications.
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Sample genotype (not yours): C/C
Typical Heart Disease Risk
Cardiovascular risk remains at baseline levels due to carrying two copies of the protective ancestral allele. This common genetic profile avoids the elevated risk of arterial plaque buildup and early-onset heart attacks linked to the variant.
What this genotype means: Typical baseline risk of coronary artery disease; Typical baseline risk of early-onset heart attacks; Slightly higher pulse pressure.
Sample genotype (not yours): C/T
Increased Heart Disease Risk
Arterial health may be impacted by carrying one copy of the risk-associated variant. This genetic profile is linked to a slightly higher likelihood of developing coronary artery disease and experiencing early-onset heart attacks.
What this genotype means: Slightly increased risk of coronary artery disease; Slightly increased risk of early-onset heart attacks; Modestly lower risk of migraines.
Sample genotype (not yours): T/T
Highest Heart Disease Risk
Heart health is more strongly influenced by carrying two copies of the risk-associated variant. This profile is associated with the highest genetic risk at this locus for coronary artery disease and early-onset heart attacks.
What this genotype means: Highest genetic risk at this locus for coronary artery disease; Highest genetic risk at this locus for early-onset heart attacks; Lowest risk of migraines.
Gene function and biological role
Gene Function: This genetic region on chromosome 21q22.11 lies between the SLC5A3, MRPS6, and KCNE2 genes, and overlaps the non-coding RNA LINC00310. SLC5A3 is responsible for transporting myo-inositol, which is vital for cellular signaling and osmotic regulation. MRPS6 helps assemble mitochondrial ribosomes, which are essential for cellular energy production. KCNE2 encodes a potassium channel subunit that regulates electrical activity in the heart. Although this locus is intergenic, it acts as a regulatory hub that influences the expression of these neighboring genes in vascular tissues.
Variant Impact: The rs9982601 variant is a single nucleotide change from cytosine to thymine (C to T) in a non-coding region. This change does not alter any protein structure directly but instead modifies gene regulation. The T allele is associated with increased expression of SLC5A3 and MRPS6 in aortic tissues, which may influence vascular function and plaque stability. It is a well-replicated genetic marker for coronary artery disease and early-onset heart attacks.
Key Insight: This variant lies in a gene desert but acts as a remote control, altering how nearby heart-related genes are expressed in the aorta. While the risk allele increases heart attack risk, it actually correlates with a slightly lower risk of migraines.
Location: KCNE2. Chromosome 21 · 21q22.11 · 34.2 Mb
Estimated prevalence by population
Global 72.5%; European 75.1%; African 59.0%; East Asian 99.9%; South Asian 87.2%; Americas 80.6%; Ashkenazi 77.9%; Finnish 74.4%; Middle Eastern 85.6%; Amish 77.3%.
Estimated CC genotype frequency.
Global 24.9%; European 23.2%; African 35.6%; East Asian 0.1%; South Asian 12.4%; Americas 18.4%; Ashkenazi 20.7%; Finnish 23.7%; Middle Eastern 13.8%; Amish 21.2%.
Estimated CT genotype frequency.
Global 2.6%; European 1.8%; African 5.4%; East Asian < 0.1%; South Asian 0.4%; Americas 1.0%; Ashkenazi 1.4%; Finnish 1.9%; Middle Eastern 0.6%; Amish 1.5%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. Typical Risk.
Heart Attack. Evidence: 8/10. Source: PMID 19198609. Typical Risk.
Hypertension
Pulse Pressure. Evidence: 8/10. Source: PMID 32632093. Slightly Higher.
Neurology & Mental Health
Headache & Migraine
Migraine. Evidence: 6/10. Source: PMID 32632093. Typical Risk.
Showing effects for C/T genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. ~1.18x Risk.
Heart Attack. Evidence: 8/10. Source: PMID 19198609. ~1.2x Risk.
Pulse Pressure. Evidence: 8/10. Source: PMID 32632093. Typical.
Migraine. Evidence: 6/10. Source: PMID 32632093. Lower Risk.
Showing effects for T/T genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. Highest Risk.
Heart Attack. Evidence: 8/10. Source: PMID 19198609. Highest Risk.
Pulse Pressure. Evidence: 8/10. Source: PMID 32632093. Slightly Lower.
Migraine. Evidence: 6/10. Source: PMID 32632093. Lowest Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Baseline cardiovascular risk is maintained because this genotype lacks the risk-associated T allele. Large-scale genome-wide association studies show that carrying two copies of the C allele is protective against coronary artery disease and early-onset myocardial infarction compared to carrying the T variant. In high-risk clinical cohorts, individuals with this genotype have demonstrated significantly better long-term survival rates after experiencing a cardiac event. While this profile is highly favorable for arterial health, it is associated with a very minor increase in pulse pressure. Additionally, this genotype does not carry the protective effect against migraines that is seen with the T allele. Overall, maintaining a heart-healthy lifestyle remains the primary focus for managing baseline cardiovascular risk.
Typical baseline risk of coronary artery disease; Typical baseline risk of early-onset heart attacks; Slightly higher pulse pressure.
Sample genotype: CT (Heterozygous)
Vascular health is influenced by the presence of one copy of the risk-associated T allele. This variant is linked to an approximate 18 percent increase in the risk of developing coronary artery disease. It also raises the likelihood of experiencing an early-onset myocardial infarction by about 20 percent. Researchers believe this variant acts as a regulatory element that increases the expression of nearby genes in aortic tissue, potentially affecting arterial wall integrity and plaque formation. On the other hand, this profile is associated with a slightly lower pulse pressure. It also provides a modest protective effect against developing migraines. Standard cardiovascular preventative measures, such as managing cholesterol and blood pressure, are particularly useful for individuals with this genetic profile.
Slightly increased risk of coronary artery disease; Slightly increased risk of early-onset heart attacks; Modestly lower risk of migraines.
Sample genotype: TT (Homozygous)
Cardiovascular risk is most elevated at this locus due to carrying two copies of the T variant. This genotype is associated with the highest risk of developing coronary artery disease and experiencing early-onset myocardial infarction. The genetic mechanism involves altered regulation of the SLC5A3 and MRPS6 genes in the aortic wall, which may accelerate arterial plaque buildup. Clinical studies suggest that individuals with this profile who experience a cardiac event may have lower long-term survival rates if they fall into high-risk categories. Conversely, this genotype is associated with the lowest pulse pressure measurements at this locus. It also provides the strongest genetic protection against migraines among the three genotypes. Focusing on modifiable cardiovascular risk factors, such as diet, exercise, and regular lipid screenings, is highly beneficial.
Highest genetic risk at this locus for coronary artery disease; Highest genetic risk at this locus for early-onset heart attacks; Lowest risk of migraines.
Variants with shared genetic architecture
rs28451064 · KCNE2 Gene · Chr 21 · Arterial Health and SCAD Risk
rs2505083 · JCAD Gene · Chr 10 · Heart Disease Risk
rs16986953 · Chr 2 · Heart Disease Risk
Content updated August 2026.
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