What you carry at this position in your DNA and what research says about it.
Lung Disease Risk: 8/10 evidence, 25 publications.
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Sample genotype (not yours): A/A
Typical Lung Disease Risk and Baseline Heart Health
This profile is associated with normal baseline levels of the MMP-9 enzyme. It offers protection against the elevated risks of lung disease and tissue degradation linked to the variant allele.
What this genotype means: Typical baseline levels of MMP-9 enzyme activity; Lower risk of lung cancer metastasis; Standard risk of developing COPD.
Sample genotype (not yours): A/G
Moderately Increased Risk of Lung and Inflammatory Diseases
Carrying one copy of the G allele leads to slightly elevated MMP-9 enzyme activity. This increase is associated with a higher susceptibility to lung damage and inflammatory tissue remodeling.
What this genotype means: Moderately elevated circulating MMP-9 levels; Increased risk of COPD in smokers; Higher susceptibility to lumbar disc herniation.
Sample genotype (not yours): G/G
Elevated Risk of COPD and Lung Cancer Metastasis
Two copies of the G allele significantly increase MMP-9 enzyme activity. This profile is linked to a threefold higher risk of COPD in smokers and a greater likelihood of tumor metastasis.
What this genotype means: Significantly elevated MMP-9 enzyme activity; Threefold increased risk of COPD in smokers; Higher risk of lung cancer metastasis.
Gene function and biological role
Gene Function: The MMP9 gene encodes matrix metallopeptidase 9, a zinc-dependent enzyme responsible for breaking down the extracellular matrix in normal physiological processes [1]. This protein plays an essential role in tissue remodeling, wound healing, and blood vessel development [1]. However, excessive activity of this enzyme can lead to the degradation of healthy tissues, contributing to inflammatory diseases and tumor metastasis [2]. It is highly active in various tissues, particularly in response to inflammatory signals [2].
Variant Impact: The rs17576 variant is a missense mutation in exon 6 of the MMP9 gene that changes the amino acid glutamine to arginine at position 279 [2]. This amino acid substitution occurs within the fibronectin type II domain, which is critical for substrate recognition and binding [2]. The change from a neutral glutamine to a positively charged arginine is thought to alter the enzyme's conformation and increase its catalytic activity [2]. Consequently, this variant directly influences circulating levels of the MMP-9 protein and modifies tissue remodeling processes throughout the body [3].
Key Insight: The G allele increases the activity of the tissue-degrading MMP-9 enzyme, which significantly raises the risk of lung damage in smokers and facilitates cancer metastasis.
Location: MMP9. Chromosome 20 · 20q13.12 · 46.0 Mb
Estimated prevalence by population
Global 40.6%; European 41.4%; African 43.0%; East Asian 7.5%; South Asian 23.2%; Americas 52.7%; Ashkenazi 37.3%; Finnish 33.9%; Middle Eastern 44.6%; Amish 43.2%.
Estimated AA genotype frequency.
Global 45.2%; European 45.9%; African 45.2%; East Asian 39.8%; South Asian 49.9%; Americas 39.8%; Ashkenazi 47.5%; Finnish 48.6%; Middle Eastern 44.4%; Amish 45.1%.
Estimated AG genotype frequency.
Global 14.2%; European 12.7%; African 11.9%; East Asian 52.8%; South Asian 26.9%; Americas 7.5%; Ashkenazi 15.1%; Finnish 17.5%; Middle Eastern 11.0%; Amish 11.8%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Respiratory Health
Lung Disease. Evidence: 3/10. Source: PMID 16061858. Typical Risk.
Bone, Joint & Connective Tissue Health
Lumbar Disc Herniation. Evidence: 3/10. Source: PMID 30289281. Typical Risk.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
MMP-9 Protein Levels. Evidence: 8/10. Source: PMID 39789286. Typical Levels.
Cardiovascular & Metabolic
Heart Disease
Heart Attack. Evidence: 3/10. Source: PMID 23819814. Slightly Increased.
Showing effects for A/G genotype
Lung Disease. Evidence: 3/10. Source: PMID 16061858. Increased Risk.
Lumbar Disc Herniation. Evidence: 3/10. Source: PMID 30289281. Increased Risk.
MMP-9 Protein Levels. Evidence: 8/10. Source: PMID 39789286. Moderately Elevated.
Showing effects for G/G genotype
Lung Disease. Evidence: 3/10. Source: PMID 16061858. Elevated Risk.
MMP-9 Protein Levels. Evidence: 8/10. Source: PMID 39789286. Elevated Levels.
Heart Attack. Evidence: 3/10. Source: PMID 23819814. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Having two copies of the reference A allele means the body produces the standard, lower-activity form of the MMP-9 enzyme [1]. This baseline activity level is associated with a typical risk of developing chronic obstructive pulmonary disease (COPD), even among smokers [2]. It also correlates with a lower likelihood of lung cancer metastasis compared to carrying the variant G allele [2]. While some early research suggested a very slight trend toward increased myocardial infarction risk, subsequent large-scale studies have found this association to be weak and statistically non-significant [3]. Overall, this genotype represents the common, lower-risk baseline for inflammatory tissue damage.
Typical baseline levels of MMP-9 enzyme activity; Lower risk of lung cancer metastasis; Standard risk of developing COPD.
Sample genotype: AG (Heterozygous)
Carrying one copy of the G allele results in an intermediate increase in circulating MMP-9 levels and enzyme activity [1]. This elevated activity can accelerate the breakdown of extracellular matrix proteins, particularly in the lungs [2]. Consequently, smokers with this genotype face a higher risk of developing chronic obstructive pulmonary disease (COPD) [2]. There is also a moderately increased risk of lung cancer progression and metastasis due to enhanced tissue remodeling [2]. Additionally, some studies link this genotype to a higher susceptibility to lumbar disc herniation and inflammatory vascular changes [3].
Moderately elevated circulating MMP-9 levels; Increased risk of COPD in smokers; Higher susceptibility to lumbar disc herniation.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele leads to the highest levels of MMP-9 enzyme activity [1]. This excess enzyme activity causes accelerated degradation of the extracellular matrix, making tissues more vulnerable to inflammatory damage [1]. In the lungs, this process is highly destructive; smokers with this genotype have a threefold increased risk of developing chronic obstructive pulmonary disease (COPD) [2]. It is also associated with a significantly higher risk of lung cancer metastasis, as the highly active enzyme helps cancer cells break through tissue barriers [2]. Furthermore, this genotype is linked to an increased susceptibility to duodenal ulcers and lumbar disc herniation [3].
Significantly elevated MMP-9 enzyme activity; Threefold increased risk of COPD in smokers; Higher risk of lung cancer metastasis.
Variants with shared genetic architecture
rs17577 · MMP9 Gene · Chr 20 · Asthma and Heart Risk
rs2250889 · MMP9 Gene · Chr 20 · Lung Cancer Risk
rs3918242 · MMP9 Gene · Chr 20 · Heart Attack Risk
A scalable variational inference approach for increased mixed-model association power.
Content updated August 2026.
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