COL11A1 rs1533428: What Your Genotype Means
The rs1533428 variant is a genetic marker located within the COL11A1 gene. It has been studied for its potential association with susceptibility to primary angle-closure glaucoma (PACG), a condition affecting the eye's drainage system.
What each genotype means
Baseline glaucoma risk
This genotype represents the baseline genetic profile for this specific variant in the COL11A1 gene. Research indicates that individuals with this genotype do not carry the specific allele associated with increased susceptibility to primary angle-closure glaucoma (PACG) at this location. Please note that glaucoma risk is multifactorial, and you should continue routine eye examinations with your ophthalmologist.
This is the most common genotype in many global populations, though frequencies vary significantly by ancestry.
Slightly increased glaucoma risk
Carrying one copy of the G allele is associated with a statistically higher susceptibility to primary angle-closure glaucoma (PACG) compared to those without it. While this association has been identified in large-scale studies, it is only one of many factors that influence eye health. You should discuss your family history and regular screening needs with an eye care professional.
This heterozygous genotype is common, appearing in approximately 20-40% of individuals in many East Asian and South Asian cohorts.
Elevated glaucoma risk
Individuals with two copies of the G allele show a stronger statistical association with susceptibility to primary angle-closure glaucoma (PACG) in research studies. This variant is thought to influence ocular biometry and morphology, which are relevant to glaucoma development. Because this is a complex condition, this result should be viewed as a risk factor rather than a diagnosis; regular monitoring by an eye specialist is recommended.
This genotype is observed frequently in East Asian and South Asian populations, where the G allele is common.
Understanding the SNP and Its Location
A single nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs1533428 is located within the COL11A1 gene, which provides instructions for making a component of type XI collagen. Collagen is a protein that provides structure and strength to various tissues in the body, including the eye. By studying these small variations, researchers aim to understand how specific genetic differences might influence the risk of developing certain health conditions. It is important to note that having a specific SNP does not mean an individual will develop a disease; rather, it represents a statistical association observed in large-scale population studies.
The Role of the COL11A1 Gene
The COL11A1 gene encodes the alpha 1 chain of type XI collagen. This protein is essential for the formation of collagen fibrils, which are the building blocks of connective tissues. In the eye, these structures are vital for maintaining the integrity of the vitreous humor and other ocular tissues. Mutations in this gene are well-documented in rare, inherited conditions such as Stickler syndrome and Marshall syndrome, which can involve significant vision and hearing issues. While rare, pathogenic mutations in COL11A1 can lead to structural eye abnormalities. The variant rs1533428 is distinct from these rare, high-impact mutations, as it is a common variation being investigated for its role in more complex, multifactorial eye conditions like glaucoma.
Research and Evidence Strength
Research into rs1533428 and its link to primary angle-closure glaucoma (PACG) is ongoing. While some studies have identified associations between variants in the COL11A1 region and PACG susceptibility, the evidence remains limited. PACG is a complex disease influenced by both genetic and environmental factors, making it difficult to pinpoint the exact contribution of any single SNP. Many studies in this field use genome-wide association studies (GWAS) to identify markers that appear more frequently in individuals with a condition compared to those without. Because these associations are statistical, they do not establish a direct cause-and-effect relationship. Further research is required to determine the biological mechanism, if any, by which this specific variant might influence glaucoma risk.
Population Frequency
The frequency of genetic variants can vary significantly across different ancestral groups. For rs1533428, data indicates that it is relatively common in East Asian and South Asian populations, with reported frequencies ranging from approximately 20% to 40%. Understanding these population-specific frequencies is crucial for researchers, as it helps them account for genetic diversity when conducting association studies. If a variant is common in a specific population, it may be easier to study, but it also means that the variant alone is unlikely to be the sole cause of a disease, as many people without the condition will also carry the variant.
Interpreting Your Genetic Information
If you have received information about your genotype for rs1533428, it is important to view it in the proper context. Genetic associations are not diagnostic tools; they provide information about statistical risk, not certainty. Many factors, including age, family history, and lifestyle, play a much larger role in the development of eye conditions like glaucoma than any single SNP. You cannot use this information to diagnose yourself or predict your future health. If you have concerns about your vision or your risk for glaucoma, the most appropriate step is to consult with an eye care professional, such as an ophthalmologist. They can perform clinical exams that are far more predictive of your eye health than genetic testing alone.
How common is this variant?
The rs1533428 variant is common in East Asian and South Asian cohorts, with allele frequencies typically observed between 20% and 40%.
Frequently asked questions
Does having the rs1533428 variant mean I will get glaucoma?
No. This variant is only associated with a statistical increase in risk in some studies. Most people who carry this variant will never develop glaucoma.
Should I get a genetic test for glaucoma?
Routine genetic testing for glaucoma is not currently recommended for the general public. Clinical eye exams are the standard and most effective way to monitor your eye health.
What is the difference between a mutation and a SNP?
A mutation is typically a rare change that has a significant impact on gene function, often causing a specific disease. A SNP is a common variation found in many people that usually has a much smaller or neutral effect.
Can I change my risk if I have this variant?
You cannot change your genetics, but you can manage your health through regular check-ups with an eye doctor. Maintaining overall eye health is the best way to manage risk for any eye condition.
Sources & further reading
Educational information only, last refreshed 10/13/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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