What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 6/10 evidence, 61 publications.
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Sample genotype (not yours): A/A
Higher Heart Disease and Tissue Scarring Risk
Elevated TGF-beta1 protein levels increase the likelihood of coronary artery disease and severe tissue scarring after radiation therapy. There is also an increased risk of developing hives when taking aspirin.
What this genotype means: Increased risk of coronary artery disease; Higher susceptibility to radiation-induced tissue scarring; Increased risk of hives when taking aspirin.
Sample genotype (not yours): A/G
Moderately Elevated Heart and Scarring Risks
Slightly elevated TGF-beta1 levels contribute to a moderate increase in coronary artery disease and radiation-induced scarring. Adverse reactions to aspirin and certain chemotherapy drugs are also more common.
What this genotype means: Moderately increased risk of coronary artery disease; Elevated risk of severe diarrhea from irinotecan chemotherapy; Increased risk of hives from aspirin.
Sample genotype (not yours): G/G
Lower Heart Risk but Higher Lung Susceptibility
Typical heart disease and radiation scarring risks are paired with a higher susceptibility to chronic obstructive pulmonary disease. There is also an increased risk of diarrhea during irinotecan therapy.
What this genotype means: Typical risk of coronary artery disease and radiation scarring; Increased risk of chronic obstructive pulmonary disease; Higher risk of severe diarrhea during irinotecan treatment.
Gene function and biological role
Gene Function: The TGFB1 gene encodes transforming growth factor beta 1, a multifunctional cytokine that regulates cell growth, inflammation, and tissue repair. It plays a critical role in maintaining the structural integrity of blood vessels and controlling immune responses [1]. Dysregulation of this protein is linked to various conditions, including cardiovascular disease, tissue scarring, and immune disorders [2]. Because it acts as a master regulator of the extracellular matrix, its expression levels must be tightly controlled to prevent excessive scarring or blood vessel damage.
Variant Impact: The rs1800469 variant, also known as -509C/T, is located in the promoter region of the TGFB1 gene and directly influences how much of the protein is produced. The minor A allele (corresponding to the T promoter variant) prevents inhibitory transcription factors from binding, leading to significantly higher circulating levels of TGF-beta1 [3]. Conversely, the major G allele (corresponding to the C promoter variant) allows downregulation, resulting in lower protein levels [4]. This genetically determined difference in protein abundance alters susceptibility to cardiovascular events, tissue scarring, and inflammatory airway conditions.
Key Insight: This single promoter variant acts like a dial for TGF-beta1 production, where having the minor allele can double circulating levels of this key inflammatory regulator.
Location: TGFB1. Chromosome 19 · 19q13.2 · 41.4 Mb
Estimated prevalence by population
Global 10.4%; European 9.7%; African 5.6%; East Asian 30.7%; South Asian 14.3%; Americas 18.4%; Ashkenazi 20.7%; Finnish 6.6%; Middle Eastern 16.1%; Amish 3.4%.
Estimated AA genotype frequency.
Global 41.8%; European 42.9%; African 36.1%; East Asian 49.4%; South Asian 47.0%; Americas 49.0%; Ashkenazi 49.6%; Finnish 38.1%; Middle Eastern 48.1%; Amish 30.1%.
Estimated AG genotype frequency.
Global 47.8%; European 47.4%; African 58.3%; East Asian 19.8%; South Asian 38.7%; Americas 32.6%; Ashkenazi 29.7%; Finnish 55.3%; Middle Eastern 35.8%; Amish 66.6%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 6/10. Source: PMID 36474045. Higher Risk.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
TGF-beta1 Levels. Evidence: 4/10. Source: PMID 30072576. Elevated Levels.
Cancer & Oncology
Cancer Prognosis & Treatment Outcome
Radiation Scarring. Evidence: 3/10. Source: PMID 22385796. ~4x Higher Risk.
Organ Systems
Respiratory Health
COPD. Evidence: 3/10. Source: PMID 21320324. Typical Risk.
Pharmacogenomics
Adverse Drug Reactions
Aspirin Hives Risk. Evidence: 5/10. Source: PMID 19138248. Increased Risk.
Chemotherapy Response
Irinotecan Diarrhea. Evidence: 5/10. Source: PMID 27160286. Typical Risk.
Showing effects for A/G genotype
Coronary Artery Disease. Evidence: 6/10. Source: PMID 36474045. Slightly Higher Risk.
TGF-beta1 Levels. Evidence: 4/10. Source: PMID 30072576. Slightly Elevated.
Radiation Scarring. Evidence: 3/10. Source: PMID 22385796. Increased Risk.
COPD. Evidence: 3/10. Source: PMID 21320324. Slightly Higher Risk.
Irinotecan Diarrhea. Evidence: 5/10. Source: PMID 27160286. Increased Risk.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 6/10. Source: PMID 36474045. Typical Risk.
TGF-beta1 Levels. Evidence: 4/10. Source: PMID 30072576. Lower Levels.
Radiation Scarring. Evidence: 3/10. Source: PMID 22385796. Typical Risk.
COPD. Evidence: 3/10. Source: PMID 21320324. Higher Risk.
Aspirin Hives Risk. Evidence: 5/10. Source: PMID 19138248. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Genetically elevated levels of TGF-beta1 promote tissue remodeling and fibrosis throughout the body. Large-scale genetic studies show that this increased expression is associated with a higher risk of coronary artery disease [1]. In clinical settings, individuals undergoing radiation therapy for breast or thoracic cancers are at a significantly higher risk of developing severe, painful tissue scarring and fibrosis [2]. Additionally, this genotype is linked to a higher risk of developing hives as an adverse reaction to aspirin [3]. Conversely, these elevated protein levels appear to offer some protection against chronic obstructive pulmonary disease compared to other genotypes [4].
Increased risk of coronary artery disease; Higher susceptibility to radiation-induced tissue scarring; Increased risk of hives when taking aspirin.
Sample genotype: AG (Heterozygous)
Carrying one copy of the minor A allele results in intermediate circulating levels of the TGF-beta1 protein. This intermediate state is associated with a moderate increase in the risk of coronary artery disease compared to the major homozygote [1]. During radiation treatments, there remains an elevated risk of normal tissue toxicity and scarring [2]. Pharmacogenomic data also indicates a higher likelihood of developing aspirin-intolerant hives [3]. Furthermore, individuals with this genotype may experience an increased risk of severe diarrhea when treated with the chemotherapy drug irinotecan [4].
Moderately increased risk of coronary artery disease; Elevated risk of severe diarrhea from irinotecan chemotherapy; Increased risk of hives from aspirin.
Sample genotype: GG (Homozygous)
Lower baseline levels of TGF-beta1 help maintain typical cardiovascular health and protect against excessive tissue scarring. This genotype is associated with a lower risk of coronary artery disease compared to carriers of the A allele [1]. Normal tissue behaves typically during radiation therapy, with a low risk of severe fibrosis [2]. However, lower levels of this cytokine are associated with an increased susceptibility to chronic obstructive pulmonary disease, particularly among smokers [3]. Additionally, clinical studies show a higher risk of experiencing severe diarrhea when undergoing chemotherapy with irinotecan [4].
Typical risk of coronary artery disease and radiation scarring; Increased risk of chronic obstructive pulmonary disease; Higher risk of severe diarrhea during irinotecan treatment.
Variants with shared genetic architecture
rs1800470 · TGFB1 Gene · Chr 19 · Cardiovascular Health
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.
TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients.
Content updated August 2026.
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