What you carry at this position in your DNA and what research says about it.
Cardiovascular Health: 8/10 evidence, 58 publications.
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Sample genotype (not yours): G/G
Higher Pulse Pressure and Cardiovascular Risk
Proline-encoding alleles are associated with lower circulating cytokine levels but higher vascular tension. This pattern is linked to elevated pulse pressure and increased susceptibility to coronary complications.
What this genotype means: Higher arterial stiffness; Increased risk of coronary complications; Slightly higher migraine susceptibility.
Sample genotype (not yours): A/A
Lower Pulse Pressure and Cardiovascular Protection
Leucine-encoding alleles promote higher circulating levels of the signaling protein, which supports vascular elasticity. This genotype is linked to lower pulse pressure and reduced coronary risk.
What this genotype means: Lower pulse pressure; Reduced risk of coronary artery disease; Lower susceptibility to migraines.
Sample genotype (not yours): G/A
Typical Cardiovascular Profile
A balanced genetic makeup results in typical blood pressure dynamics and average cardiovascular risk. This genotype is also associated with an improved response to certain immunotherapies.
What this genotype means: Typical blood pressure levels; Baseline cardiovascular risk; Potentially enhanced response to rituximab.
Gene function and biological role
Gene Function: Transforming growth factor beta 1 is a multifunctional cytokine that plays a crucial role in regulating cell growth, immune function, and tissue repair [1]. It acts as a key mediator of extracellular matrix production, which is essential for maintaining the structural integrity of blood vessels and organs [2]. Dysregulation of this pathway is heavily implicated in tissue fibrosis, wound healing, and cardiovascular remodeling [3]. The gene is also studied for its complex, dual role in cancer, where it can act as both a tumor suppressor in early stages and a promoter of metastasis in advanced stages [4].
Variant Impact: The rs1800470 variant, also known as Pro10Leu, is a missense mutation in the signal peptide region of the gene that alters codon 10 from proline to leucine [2]. This amino acid substitution directly influences the secretion rate of the protein, with the leucine-encoding allele associated with higher circulating levels in the blood [5]. Because of its impact on cytokine levels, this variant has been extensively researched for its downstream effects on vascular elasticity, blood pressure regulation, and susceptibility to fibrotic diseases [3]. Clinical databases classify this variant as benign regarding direct, single-gene disorders, confirming it acts as a subtle genetic modifier rather than a direct cause of disease [6].
Key Insight: This variant acts as a molecular dial for TGF-beta1 secretion, meaning it subtly influences how your body repairs blood vessels and manages inflammation without causing direct disease.
Location: TGFB1. Chromosome 19 · 19q13.2 · 41.4 Mb
Estimated prevalence by population
Global 17.3%; European 15.1%; African 18.1%; East Asian 30.9%; South Asian 20.8%; Americas 23.3%; Ashkenazi 24.9%; Finnish 8.2%; Middle Eastern 22.7%; Amish 4.6%.
Estimated GG genotype frequency.
Global 47.8%; European 47.5%; African 48.9%; East Asian 49.4%; South Asian 49.6%; Americas 49.9%; Ashkenazi 50.0%; Finnish 40.9%; Middle Eastern 49.9%; Amish 33.7%.
Estimated GA genotype frequency.
Global 34.9%; European 37.3%; African 33.0%; East Asian 19.7%; South Asian 29.5%; Americas 26.8%; Ashkenazi 25.1%; Finnish 50.9%; Middle Eastern 27.4%; Amish 61.6%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Hypertension
Pulse Pressure. Evidence: 8/10. Source: PMID 38689001. Higher.
Heart Disease
Coronary Artery Disease. Evidence: 4/10. Source: PMID 35915156. Increased Risk.
Neurology & Mental Health
Headache & Migraine
Migraine. Evidence: 8/10. Source: PMID 32632093. Increased Risk.
Pharmacogenomics
Immunosuppressant & Biologic Response
Rituximab Response. Evidence: 5/10. Source: PMID 22129793. Typical.
Showing effects for A/A genotype
Pulse Pressure. Evidence: 8/10. Source: PMID 38689001. Lower.
Coronary Artery Disease. Evidence: 4/10. Source: PMID 35915156. Lower Risk.
Migraine. Evidence: 8/10. Source: PMID 32632093. Lower Risk.
Showing effects for G/A genotype
Pulse Pressure. Evidence: 8/10. Source: PMID 38689001. Typical.
Coronary Artery Disease. Evidence: 4/10. Source: PMID 35915156. Typical.
Migraine. Evidence: 8/10. Source: PMID 32632093. Typical.
Rituximab Response. Evidence: 5/10. Source: PMID 22129793. Stronger Response.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Vascular stiffness and blood pressure dynamics are influenced by the structural proteins in blood vessel walls [1]. Having two copies of the G allele leads to lower circulating levels of the signaling protein, which can alter the remodeling of the extracellular matrix in the cardiovascular system [2]. Large-scale genetic studies show a significant association between this genotype and higher pulse pressure, which is a key marker of arterial stiffness [1]. Additionally, clinical research has linked this specific genetic profile to an increased risk of coronary artery disease complications [3]. There is also a documented overlap between blood pressure regulation and migraine susceptibility, placing this group at a slightly higher risk for migraines [4].
Higher arterial stiffness; Increased risk of coronary complications; Slightly higher migraine susceptibility.
Sample genotype: AA (Homozygous)
Arterial walls require continuous maintenance and remodeling to remain flexible and resilient under pressure [1]. Having two copies of the A allele leads to higher circulating levels of the signaling protein, which helps optimize the extracellular matrix within blood vessels [2]. Large-scale genome-wide association studies have consistently linked this genotype to lower pulse pressure, indicating healthier arterial elasticity [3]. This vascular benefit translates to a lower overall risk of developing coronary artery disease and its associated complications [4]. Furthermore, the favorable blood pressure dynamics associated with this profile are correlated with a reduced susceptibility to vascular-related migraines [1].
Lower pulse pressure; Reduced risk of coronary artery disease; Lower susceptibility to migraines.
Sample genotype: GA (Heterozygous)
Carrying one proline allele and one leucine allele results in intermediate circulating levels of the signaling protein [1]. This balance generally translates to a typical cardiovascular risk profile, with average pulse pressure and standard arterial elasticity [2]. Interestingly, clinical trials have observed that this specific heterozygous profile is associated with a significantly better therapeutic response to rituximab, a common immunotherapy used for autoimmune conditions [3]. While the exact mechanism remains under investigation, it highlights how subtle variations in tissue-repair cytokines can influence drug efficacy [3]. Overall, health risks remain at the population baseline, making standard lifestyle choices the primary driver of cardiovascular outcomes [4].
Typical blood pressure levels; Baseline cardiovascular risk; Potentially enhanced response to rituximab.
Variants with shared genetic architecture
rs1800469 · TGFB1 Gene · Chr 19 · Heart Disease Risk
rs1800471 · TGFB1 Gene · Chr 19 · Tissue Fibrosis Risk
rs4803455 · TGFB1 Gene · Chr 19 · Heart Disease Risk
Co-regulatory networks of human serum proteins link genetics to disease.
TGF-β signaling pathway and breast cancer susceptibility.
Genetic modifiers of lung disease in cystic fibrosis.
A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine.
Content updated August 2026.
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