What you carry at this position in your DNA and what research says about it.
Vascular Health Trade-off: 10/10 evidence, 55 publications.
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Sample genotype (not yours): A/A
Higher Migraine and Artery Tear Risk, Lower Heart Attack Risk
A dual-A genetic profile increases the risk of migraines, spontaneous artery tears, and fibromuscular dysplasia. However, this same biology provides significant protection against coronary artery disease and heart attacks.
What this genotype means: Significantly lower risk of coronary artery disease and heart attacks; Increased susceptibility to migraines and tension headaches; Higher risk of spontaneous coronary artery dissection and fibromuscular dysplasia.
Sample genotype (not yours): A/G
Typical Vascular Risk and Balanced Arterial Tone
An intermediate genetic profile results in a balanced influence on blood vessel function. This balanced state maintains typical risks for both coronary artery disease and migraine headaches.
What this genotype means: Typical baseline risk for coronary artery disease and heart attacks; Average susceptibility to migraines and vascular headaches; Slightly elevated risk for spontaneous artery tears compared to G/G.
Sample genotype (not yours): G/G
Higher Heart Attack Risk, Lower Migraine and Artery Tear Risk
A dual-G genetic profile raises the risk of coronary artery disease and heart attacks due to increased blood vessel constriction. On the positive side, this biology offers strong protection against migraines and spontaneous artery tears.
What this genotype means: Increased risk of coronary artery disease and myocardial infarction; Strong protection against migraines and tension headaches; Significantly lower risk of spontaneous coronary artery dissection and fibromuscular dysplasia.
Gene function and biological role
Gene Function: The PHACTR1 gene encodes phosphatase and actin regulator 1, a protein that plays a critical role in regulating the cellular skeleton and endothelial cell function [1]. It is highly expressed in both brain tissue and the vascular system, where it helps control the structural integrity of blood vessels [2]. Although the gene itself is involved in cell movement and structural remodeling, its locus on chromosome 6 acts as a major regulatory hub for cardiovascular health [3]. Specifically, genetic variation in this region influences the activity of nearby genes that control blood vessel contraction and tone [4]. This makes the gene a central player in determining susceptibility to several distinct vascular conditions [3].
Variant Impact: The rs9349379 variant is a single nucleotide change located in the non-coding region of the PHACTR1 gene [5]. Rather than altering the PHACTR1 protein itself, this variant functions as a long-range genetic switch that regulates the expression of EDN1, a gene located 600 kilobases away [3]. The EDN1 gene produces endothelin-1, an extremely potent hormone that constricts blood vessels and regulates blood pressure [4]. The G allele of this variant increases the production of endothelin-1, leading to tighter blood vessels and a higher risk of plaque buildup [3]. Conversely, the A allele reduces endothelin-1 levels, which preserves vessel elasticity but alters the structural response of the arterial wall [6].
Key Insight: This single genetic letter acts as a biological seesaw, where protecting yourself from heart attacks simultaneously increases your risk of migraines and rare artery tears.
Location: PHACTR1. Chromosome 6 · 6p24.1 · 12.9 Mb
Estimated prevalence by population
Global 48.1%; European 35.2%; African 84.2%; East Asian 10.6%; South Asian 23.2%; Americas 42.5%; Ashkenazi 34.3%; Finnish 31.0%; Middle Eastern 45.1%; Amish 48.9%.
Estimated AA genotype frequency.
Global 38.8%; European 48.2%; African 15.1%; East Asian 43.9%; South Asian 49.9%; Americas 45.4%; Ashkenazi 48.5%; Finnish 49.4%; Middle Eastern 44.1%; Amish 42.0%.
Estimated AG genotype frequency.
Global 13.2%; European 16.5%; African 0.7%; East Asian 45.5%; South Asian 26.8%; Americas 12.1%; Ashkenazi 17.2%; Finnish 19.7%; Middle Eastern 10.8%; Amish 9.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Heart Attack. Evidence: 10/10. Source: PMID 21378988. Lower Risk.
Vascular Health & Aneurysm
Artery Dissection. Evidence: 7/10. Source: PMID 32374345. ~2.7x Higher Risk.
Fibromuscular Dysplasia. Evidence: 4/10. Source: PMID 34654805. ~2x Higher Risk.
Cervical Artery Dissection. Evidence: 8/10. Source: PMID 25420145. ~1.7x Higher Risk.
Hypertension
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 27618447. +0.45 mmHg.
Neurology & Mental Health
Headache & Migraine
Migraine. Evidence: 9/10. Source: PMID 22683712. ~1.16x Higher Risk.
Showing effects for A/G genotype
Heart Attack. Evidence: 10/10. Source: PMID 21378988. Typical Risk.
Artery Dissection. Evidence: 7/10. Source: PMID 32374345. ~1.66x Higher Risk.
Fibromuscular Dysplasia. Evidence: 4/10. Source: PMID 34654805. ~1.44x Higher Risk.
Cervical Artery Dissection. Evidence: 8/10. Source: PMID 25420145. ~1.3x Higher Risk.
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 27618447. +0.23 mmHg.
Migraine. Evidence: 9/10. Source: PMID 22683712. Typical Risk.
Showing effects for G/G genotype
Heart Attack. Evidence: 10/10. Source: PMID 21378988. ~1.26x Higher Risk.
Artery Dissection. Evidence: 7/10. Source: PMID 32374345. Lower Risk.
Fibromuscular Dysplasia. Evidence: 4/10. Source: PMID 34654805. Lower Risk.
Cervical Artery Dissection. Evidence: 8/10. Source: PMID 25420145. Lower Risk.
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 27618447. Typical.
Migraine. Evidence: 9/10. Source: PMID 22683712. Lower Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Vascular structure and tone are heavily influenced by this genetic combination, which represents a major physiological trade-off. Carrying two copies of the A allele is associated with a significantly lower risk of developing coronary artery disease and experiencing myocardial infarction [1]. This protective effect against plaque buildup is driven by lower baseline levels of endothelin-1, a hormone that constricts blood vessels [2]. However, the reduction in vessel-constricting hormones is linked to an increased susceptibility to migraines, particularly migraine without aura [3]. Furthermore, this genotype is one of the strongest known genetic risk factors for spontaneous coronary artery dissection, a rare but serious tear in the heart's arteries [4]. It also increases the likelihood of developing fibromuscular dysplasia, a condition that causes abnormal cell growth in artery walls [5].
Significantly lower risk of coronary artery disease and heart attacks; Increased susceptibility to migraines and tension headaches; Higher risk of spontaneous coronary artery dissection and fibromuscular dysplasia.
Sample genotype: AG (Heterozygous)
Arterial function and vessel wall integrity are generally balanced in individuals with this heterozygous genotype. Having one A allele and one G allele means the body produces moderate, typical levels of the vasoconstricting hormone endothelin-1 [1]. Consequently, there is no strongly elevated risk for coronary artery disease or heart attacks, nor is there a highly elevated risk for migraines [2]. The risk for rarer arterial conditions, such as spontaneous coronary artery dissection or fibromuscular dysplasia, is only slightly elevated compared to the protective G/G genotype [3]. This balanced state means that standard lifestyle factors, such as diet, exercise, and stress management, play the primary role in shaping overall cardiovascular health. This genotype does not confer extreme blood pressure variations [4]. Overall, this genetic profile represents the most common baseline in many populations, reflecting a middle ground in the vascular trade-off [5].
Typical baseline risk for coronary artery disease and heart attacks; Average susceptibility to migraines and vascular headaches; Slightly elevated risk for spontaneous artery tears compared to G/G.
Sample genotype: GG (Homozygous)
Elevated levels of the potent vasoconstrictor endothelin-1 characterize this genetic profile, leading to distinct cardiovascular patterns [1]. Carrying two copies of the G allele is a well-established risk factor for coronary artery disease and myocardial infarction [2]. The increased vessel constriction and potential for arterial calcification contribute to a higher likelihood of plaque buildup over time [3]. Conversely, this high-tone arterial state appears to protect the structural integrity of blood vessel walls against certain types of physical stress. Individuals with this genotype have a significantly lower risk of experiencing migraines, particularly migraine without aura [4]. It also provides robust protection against spontaneous coronary artery dissection, a sudden tear in the artery wall [5]. Additionally, the risk of developing fibromuscular dysplasia or cervical artery dissection is minimized [6].
Increased risk of coronary artery disease and myocardial infarction; Strong protection against migraines and tension headaches; Significantly lower risk of spontaneous coronary artery dissection and fibromuscular dysplasia.
Variants with shared genetic architecture
rs12526453 · PHACTR1 Gene · Chr 6 · Heart Disease Risk
rs10857147 · FGF5 Gene · Chr 4 · Blood Pressure
rs11556924 · ZC3HC1 Gene · Chr 7 · Heart Disease Risk
Does Endothelin-1 Raise or Lower Blood Pressure in Humans?
Identification of Susceptibility Loci for Spontaneous Coronary Artery Dissection.
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.
Content updated August 2026.
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