What you carry at this position in your DNA and what research says about it.
Lung Health and COPD Risk: 9/10 evidence, 26 publications.
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Sample genotype (not yours): A/A
Higher COPD and Cardiovascular Risk
Carrying two copies of the A allele is associated with reduced lung function and an elevated risk of chronic obstructive pulmonary disease. It also correlates with higher systolic blood pressure and an increased risk of coronary artery disease.
What this genotype means: Reduced lung capacity; Increased risk of COPD; Elevated systolic blood pressure.
Sample genotype (not yours): A/G
Slightly Higher COPD and Cardiovascular Risk
Carrying one copy of the A allele is associated with a mild reduction in lung function and a slightly increased risk of chronic obstructive pulmonary disease. It is also linked to a minor increase in systolic blood pressure and coronary artery disease risk.
What this genotype means: Slightly reduced lung capacity; Modestly increased risk of COPD; Minor elevation in systolic blood pressure.
Sample genotype (not yours): G/G
Typical Lung Function and Lower COPD Risk
Carrying two copies of the G allele is associated with optimal lung capacity and a lower risk of developing chronic obstructive pulmonary disease. It also correlates with typical blood pressure and a lower risk of coronary artery disease.
What this genotype means: Optimal lung capacity; Lower risk of COPD; Typical blood pressure.
Gene function and biological role
Gene Function: TNS1 encodes tensin 1, a focal adhesion protein that plays a critical role in linking the extracellular matrix to the actin cytoskeleton. This protein is highly expressed in lung tissue, particularly in airway smooth muscle cells, where it regulates cellular adhesion, migration, and tissue remodeling. Studies show that tensin 1 is essential for maintaining normal lung structure and function, and its dysregulation is a key feature of chronic respiratory diseases. It also influences cellular signaling pathways that affect vascular integrity and blood pressure regulation.
Variant Impact: The rs2571445 variant is a missense mutation in the TNS1 gene that causes an amino acid substitution from tryptophan to arginine at position 1301 of the tensin 1 protein. This structural change alters the protein's stability and its interaction with the extracellular matrix, directly impacting airway smooth muscle dynamics. The G allele represents the reference sequence encoding tryptophan, which is associated with optimal lung function and lower disease risk. Conversely, the A allele encodes arginine, which reduces tensin 1 activity and increases susceptibility to airflow obstruction and cardiovascular issues.
Key Insight: Although primarily known for its major impact on lung capacity and chronic obstructive pulmonary disease, this single genetic change also independently influences blood pressure and heart disease risk by altering cellular adhesion in blood vessels.
Location: TNS1. Chromosome 2 · 2q35 · 217.8 Mb
Estimated prevalence by population
Global 12.4%; European 15.5%; African 3.7%; East Asian 14.4%; South Asian 19.2%; Americas 12.7%; Ashkenazi 11.9%; Finnish 21.8%; Middle Eastern 8.8%; Amish 19.5%.
Estimated AA genotype frequency.
Global 43.0%; European 47.7%; African 31.0%; East Asian 47.1%; South Asian 49.2%; Americas 45.8%; Ashkenazi 45.2%; Finnish 49.8%; Middle Eastern 41.7%; Amish 49.3%.
Estimated AG genotype frequency.
Global 44.6%; European 36.8%; African 65.4%; East Asian 38.5%; South Asian 31.5%; Americas 41.5%; Ashkenazi 42.8%; Finnish 28.4%; Middle Eastern 49.6%; Amish 31.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Respiratory Health
COPD. Evidence: 9/10. Source: PMID 30804561. Increased Risk.
Lung Function. Evidence: 10/10. Source: PMID 20010834. Reduced Function.
Cardiovascular & Metabolic
Hypertension
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 30578418. ~0.4 mmHg Higher.
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Increased Risk.
Blood Cell & Iron Traits
Red Blood Cell Count. Evidence: 10/10. Source: PMID 27863252. Slightly Lower.
Showing effects for A/G genotype
COPD. Evidence: 9/10. Source: PMID 30804561. Slightly Increased.
Lung Function. Evidence: 10/10. Source: PMID 20010834. Slightly Reduced.
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 30578418. ~0.2 mmHg Higher.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Slightly Increased.
Red Blood Cell Count. Evidence: 10/10. Source: PMID 27863252. Typical.
Showing effects for G/G genotype
COPD. Evidence: 9/10. Source: PMID 30804561. Typical Risk.
Lung Function. Evidence: 10/10. Source: PMID 20010834. Typical Function.
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 30578418. Typical.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Typical Risk.
Red Blood Cell Count. Evidence: 10/10. Source: PMID 27863252. Slightly Higher.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the risk-associated A allele leads to the most pronounced reduction in tensin 1 protein function. Large-scale genetic analyses demonstrate that this genotype is significantly associated with lower forced expiratory volume and reduced overall lung capacity. This structural weakness in the airway smooth muscle increases the likelihood of airflow obstruction, resulting in a higher risk of chronic obstructive pulmonary disease. In addition to respiratory effects, this genotype is linked to an average increase of approximately 0.4 mmHg in systolic blood pressure. It also carries the highest genetic risk at this locus for developing coronary artery disease. Red blood cell production markers, including reticulocyte counts, are typically at their lowest with this genotype.
Reduced lung capacity; Increased risk of COPD; Elevated systolic blood pressure; Higher risk of coronary artery disease.
Sample genotype: AG (Heterozygous)
Carrying one copy of the risk-associated A allele leads to a partial reduction in tensin 1 protein efficiency, which can subtly affect the structural integrity of lung tissue. Studies have shown that carriers of a single A allele exhibit slightly lower forced expiratory volume and a modest increase in the risk of developing chronic obstructive pulmonary disease. This genotype also correlates with a minor elevation in systolic blood pressure, averaging about 0.2 mmHg higher per risk allele. Furthermore, there is a slightly higher risk of coronary artery disease associated with this genetic profile. Red blood cell markers, such as reticulocyte counts, may also be slightly lower compared to those with the G/G genotype.
Slightly reduced lung capacity; Modestly increased risk of COPD; Minor elevation in systolic blood pressure; Slightly higher coronary artery disease risk.
Sample genotype: GG (Homozygous)
Carrying two copies of the major, protective allele is linked to significantly better pulmonary function, as measured by forced expiratory volume and vital capacity. By maintaining normal tensin 1 protein function, this genotype helps protect the airway smooth muscle from abnormal remodeling and airflow limitation. Consequently, individuals with this genotype have a lower risk of developing chronic obstructive pulmonary disease compared to carriers of the A allele. Additionally, this genotype is associated with lower systolic blood pressure and a reduced risk of coronary artery disease. Red blood cell traits, such as reticulocyte count, also tend to be slightly higher, reflecting healthy bone marrow activity.
Optimal lung capacity; Lower risk of COPD; Typical blood pressure; Lower risk of coronary artery disease.
Variants with shared genetic architecture
rs1800888 · ADRB2 Gene · Chr 5 · Heart and Lung Health
rs2681492 · ATP2B1 Gene · Chr 12 · Blood Pressure Risk
rs7500448 · CDH13 Gene · Chr 16 · Heart Disease Risk
Content updated August 2026.
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