What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 10/10 evidence, 43 publications.
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Sample genotype (not yours): C/C
Typical Heart Disease Risk
Possession of the common C allele is associated with typical cardiovascular risk and standard blood pressure levels.
What this genotype means: Typical baseline risk of coronary artery disease; Standard blood pressure levels.
Sample genotype (not yours): C/T
Lower Heart Disease Risk
A single copy of the protective T allele is linked to a reduced risk of coronary artery disease and slightly lower blood pressure.
What this genotype means: Reduced risk of coronary artery disease; Slightly lower blood pressure readings.
Sample genotype (not yours): T/T
Lowest Heart Disease Risk
Double copies of the protective T allele are associated with the lowest risk of coronary artery disease and significantly healthier blood pressure levels.
What this genotype means: Lowest risk of coronary artery disease; Significantly lower blood pressure levels.
Gene function and biological role
Gene Function: ZC3HC1 encodes the nuclear-interacting partner of ALK protein, which acts as an E3 ubiquitin ligase [1]. This protein plays a vital role in regulating cell cycle progression, particularly the entry of cells into mitosis [1]. By controlling protein turnover, it directly influences how vascular cells grow, divide, and respond to mechanical stress [2]. Research indicates that alterations in this gene's activity can significantly affect the development of atherosclerosis [2].
Variant Impact: A missense mutation at rs11556924 changes the amino acid at position 363 of the encoded protein from arginine to histidine [1]. This specific structural alteration increases the protein's nuclear mobility and expression levels [1]. It also enhances the phosphorylation of a critical serine residue, which subsequently slows down the rate of cell proliferation in vascular walls [1]. This cellular slowdown is believed to reduce the buildup of arterial plaque, thereby offering protection against cardiovascular events [2].
Key Insight: Unlike many cardiovascular genetic markers that relate to cholesterol or lifestyle, this variant alters heart risk by directly changing how blood vessel cells grow and divide.
Location: ZC3HC1. Chromosome 7 · 7q32.2 · 130.0 Mb
Estimated prevalence by population
Global 56.9%; European 38.1%; African 85.7%; East Asian 89.6%; South Asian 66.7%; Americas 60.4%; Ashkenazi 38.4%; Finnish 47.4%; Middle Eastern 54.0%; Amish 35.8%.
Estimated CC genotype frequency.
Global 34.6%; European 47.2%; African 13.8%; East Asian 10.1%; South Asian 29.9%; Americas 34.6%; Ashkenazi 47.2%; Finnish 42.9%; Middle Eastern 39.0%; Amish 48.1%.
Estimated CT genotype frequency.
Global 8.5%; European 14.6%; African 0.6%; East Asian 0.3%; South Asian 3.4%; Americas 5.0%; Ashkenazi 14.5%; Finnish 9.7%; Middle Eastern 7.0%; Amish 16.1%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Heart Disease. Evidence: 10/10. Source: PMID 21378990. Typical Risk.
Heart Attack. Evidence: 9/10. Source: PMID 26343387. Typical Risk.
Heart Failure. Evidence: 9/10. Source: PMID 40195560. Typical Risk.
Hypertension
Blood Pressure. Evidence: 10/10. Source: PMID 27618452. Typical.
Blood Cell & Iron Traits
Platelet Count. Evidence: 9/10. Source: PMID 27863252. Typical.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 10/10. Source: PMID 36224396. Typical.
Showing effects for C/T genotype
Heart Disease. Evidence: 10/10. Source: PMID 21378990. Lower Risk.
Heart Attack. Evidence: 9/10. Source: PMID 26343387. Lower Risk.
Heart Failure. Evidence: 9/10. Source: PMID 40195560. Lower Risk.
Blood Pressure. Evidence: 10/10. Source: PMID 27618452. Slightly Lower.
Platelet Count. Evidence: 9/10. Source: PMID 27863252. Slightly Higher.
Height. Evidence: 10/10. Source: PMID 36224396. Slightly Taller.
Showing effects for T/T genotype
Heart Disease. Evidence: 10/10. Source: PMID 21378990. Lowest Risk.
Heart Attack. Evidence: 9/10. Source: PMID 26343387. Lowest Risk.
Heart Failure. Evidence: 9/10. Source: PMID 40195560. Lowest Risk.
Blood Pressure. Evidence: 10/10. Source: PMID 27618452. Lower.
Platelet Count. Evidence: 9/10. Source: PMID 27863252. Higher.
Height. Evidence: 10/10. Source: PMID 36224396. Taller.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Inheriting the C/C genotype means possessing two copies of the ancestral allele, which is highly common globally [1]. Large-scale genome-wide association studies have consistently linked this genotype to a standard baseline risk of coronary artery disease and myocardial infarction [1] [2]. It is also associated with typical systolic and diastolic blood pressure levels [3]. Because this is the most frequent genetic profile, it serves as the reference point for cardiovascular risk assessments [1]. Individuals with this genotype do not benefit from the protective vascular effects associated with the minor T allele [4]. Maintaining standard heart-healthy habits remains the primary way to manage cardiovascular wellness [2].
Typical baseline risk of coronary artery disease; Standard blood pressure levels.
Sample genotype: CT (Heterozygous)
One copy of the T allele provides a moderate protective effect against several common cardiovascular conditions [1]. Research indicates that individuals with this heterozygous genotype have a lower risk of developing coronary artery disease compared to those with the typical C/C profile [1] [2]. This protection is also reflected in slightly lower average systolic and diastolic blood pressure readings [3]. The biological mechanism involves a change in the NIPA protein that gently regulates how cells in the blood vessel walls multiply [4]. This subtle shift helps maintain clearer, healthier arteries over time [4]. While genetics play a supportive role, lifestyle factors like diet and exercise continue to be essential for long-term heart health [2].
Reduced risk of coronary artery disease; Slightly lower blood pressure readings.
Sample genotype: TT (Homozygous)
Two copies of the T allele offer the strongest genetic protection against coronary artery disease and heart attacks within this locus [1] [2]. Studies show that individuals with this genotype have a significantly reduced likelihood of developing arterial plaque buildup [3]. This protective effect is independent of traditional risk factors like cholesterol levels, making it a unique vascular advantage [3]. Additionally, this profile is linked to lower systolic and diastolic blood pressure, reducing strain on the cardiovascular system [4]. The underlying cellular mechanism involves a modified NIPA protein that optimizes cell cycle regulation in the blood vessels [5]. While this genotype provides a robust natural defense, maintaining a balanced lifestyle remains key to preserving these cardiovascular benefits [2].
Lowest risk of coronary artery disease; Significantly lower blood pressure levels.
Variants with shared genetic architecture
rs10857147 · FGF5 Gene · Chr 4 · Blood Pressure
rs3918226 · NOS3 Gene · Chr 7 · Cardiovascular Risk
rs604723 · ARHGAP42 Gene · Chr 11 · Blood Pressure Risk
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Content updated August 2026.
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