COL11A1 rs11210860: Understanding Genetic Links to Myopia
The rs11210860 variant is a single nucleotide polymorphism located within the COL11A1 gene. It has been studied for its potential association with variations in corneal curvature and susceptibility to severe myopia.
What each genotype means
Typical collagen structure
This genotype represents the most common form of the COL11A1 gene at this location. Research suggests this version is associated with standard corneal curvature and refractive development in the general population.
Carried by the majority of individuals of European ancestry, as the minor allele frequency is approximately 0.22.
Potential myopia susceptibility
Carrying one copy of the T allele has been associated in some studies with variations in corneal curvature and a potential increase in susceptibility to severe myopia. Because this association is based on limited evidence, it should be viewed as a statistical trend rather than a definitive indicator of eye health.
Carried by roughly 1 in 3 people of European ancestry.
Increased myopia risk profile
Individuals with two copies of the T allele may have a higher statistical association with severe myopia compared to those without the variant. This finding is based on limited evidence and does not account for the complex interplay of environmental factors and other genetic markers that influence refractive error.
Carried by approximately 1 in 20 people of European ancestry.
What is rs11210860?
The variant rs11210860 is a specific change in the DNA sequence, categorized as an intronic single nucleotide polymorphism (SNP). This means it is located within an intron, a non-coding region of the COL11A1 gene that does not directly provide instructions for building a protein. While intronic variants do not alter the protein sequence itself, they can sometimes influence how a gene is regulated or expressed. In the context of genomics, researchers track these markers to identify regions of the genome that may contribute to complex traits. Because rs11210860 sits within a gene known for its structural roles in the body, it has been a subject of interest in studies investigating the genetic architecture of the human eye and refractive errors.
The Role of the COL11A1 Gene
The COL11A1 gene provides instructions for making one component of type XI collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, and the connective tissues of the eye. Type XI collagen is particularly important for the structure of the vitreous humor and the development of the eye's connective tissue framework. Because the shape and structural integrity of the cornea and the overall axial length of the eye are critical for clear vision, genes involved in extracellular matrix remodeling—like those in the collagen family—are frequently investigated in myopia research. Understanding how these genes function helps scientists piece together the biological pathways that influence refractive development and the structural changes associated with nearsightedness.
Research and Evidence Strength
Current research into rs11210860 and its link to myopia is considered to have limited evidence strength. While genome-wide association studies (GWAS) have successfully identified numerous loci associated with refractive error and myopia, the specific contribution of individual variants like rs11210860 remains a subject of ongoing investigation. Many studies have highlighted that myopia is a polygenic trait, meaning it is influenced by the cumulative effect of many small genetic variations rather than a single "myopia gene." Consequently, while some data suggests a potential association between this COL11A1 polymorphism and corneal curvature, these findings are often context-dependent and may not be replicated across all populations. It is important to view these associations as statistical correlations observed in research cohorts rather than definitive diagnostic markers for eye health.
Population Frequency
The rs11210860 variant shows variation in its frequency across different ancestral groups. In European populations, the minor allele frequency is approximately 0.22. This indicates that the variant is relatively common, appearing in a significant portion of the population. Genetic frequency data is essential for researchers to determine whether an association is consistent across diverse groups or if it is specific to certain ancestries. Because myopia prevalence varies significantly between different global populations, understanding the distribution of such variants helps scientists refine their models of how genetics and environmental factors interact to influence vision.
Interpreting Genetic Information
Information about genetic variants like rs11210860 is intended for educational and research purposes. It is important to understand that having a specific genotype does not determine your health outcomes. Myopia is a complex condition influenced by a combination of genetic predispositions, environmental factors, and lifestyle habits, such as time spent on near-work activities or outdoor exposure. You cannot use this information to diagnose yourself or predict the development of severe myopia. If you have concerns about your vision, the health of your eyes, or your risk for refractive errors, you should consult with an optometrist or ophthalmologist. These professionals can provide comprehensive eye exams and personalized advice based on your clinical history, which is far more informative than any single genetic marker.
How common is this variant?
The minor allele frequency for rs11210860 is approximately 0.22 in European populations, making the variant relatively common.
Frequently asked questions
Is rs11210860 a cause of myopia?
No, rs11210860 is not considered a direct cause of myopia. It is a genetic marker that has shown statistical associations with refractive traits in some studies, but myopia is a complex condition influenced by many genes and environmental factors.
Can I use this SNP to predict if I will need glasses?
No, you cannot use this SNP to predict your need for glasses. Genetic markers like this provide only a tiny fraction of the information regarding your overall risk, and they are not used for clinical prediction or diagnosis.
What does it mean if a variant is in an intron?
An intronic variant is located in a non-coding part of a gene. While it does not change the protein structure, it may influence how the gene is turned on or off, which can indirectly affect biological processes.
Where can I find more information on myopia genetics?
You can explore resources like the GWAS Catalog or MedlinePlus Genetics for broad information on the genetic basis of eye conditions. Always rely on peer-reviewed scientific literature for the most accurate and up-to-date findings.
Sources & further reading
Educational information only, last refreshed 9/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs11210860?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in COL11A1
This variant in the type XI collagen alpha 1 gene is strongly associated with susceptibility to primary angle-closure glaucoma.
A pathogenic glycine substitution causing type II Stickler syndrome characterized by high myopia, vitreoretinal degeneration, and retinal detachment.
Significantly associated with increased risk of lumbar disc herniation and intervertebral disc degeneration.
Identified as a critical pleiotropic lead regulatory variant conferring susceptibility to shared age-related ocular phenotypes and axial length variation.