METTL21B rs1113588: Understanding Myopia and Scleral Remodeling
The rs1113588 variant is a common genetic polymorphism located within the METTL21B gene. It has been identified by international research consortia as a marker associated with refractive error and the biological processes involved in scleral remodeling during myopia progression.
What each genotype means
Typical refractive risk profile
This genotype represents the homozygous state for the major allele. Research indicates this variant is associated with scleral remodeling processes linked to myopia progression, though the overall impact of this specific marker is considered limited. You should continue with standard eye health monitoring as recommended by your eye care professional.
Carried by approximately 46% of individuals of European ancestry based on a minor allele frequency of 0.32.
Typical refractive risk profile
This genotype represents the heterozygous state for this variant. While this marker has been identified in large-scale studies as a factor in refractive error and scleral remodeling, its individual contribution to myopia development is modest. Regular comprehensive eye examinations remain the best approach for managing your vision health.
Carried by approximately 44% of individuals of European ancestry based on a minor allele frequency of 0.32.
Typical refractive risk profile
This genotype represents the homozygous state for the minor allele. While this variant is statistically associated with refractive error and scleral remodeling in international consortia, the evidence for its clinical impact remains limited. Please discuss any concerns regarding your vision or myopia progression with your optometrist or ophthalmologist.
Carried by approximately 10% of individuals of European ancestry based on a minor allele frequency of 0.32.
What is rs1113588?
The variant rs1113588 is a single nucleotide polymorphism (SNP) located in the human genome within the METTL21B gene. In genetics, a SNP represents a variation at a single position in a DNA sequence among individuals. This specific variant has been highlighted in large-scale genome-wide association studies (GWAS) that seek to understand the genetic architecture of refractive error. By comparing the DNA of individuals with different levels of vision clarity, researchers identify specific locations in the genome where variations occur more frequently in those with myopia compared to those without. rs1113588 serves as one of many markers that help scientists map the complex, polygenic nature of eye development and refractive health.
The Role of METTL21B
The METTL21B gene, which hosts the rs1113588 variant, is involved in cellular processes that may influence the structural integrity of the eye. Research into refractive error often focuses on the sclera, the tough, white outer layer of the eye. Myopia, or nearsightedness, is frequently associated with the elongation of the eyeball, a process that requires the sclera to undergo remodeling. While the exact functional mechanism of METTL21B in this context is still being investigated, it is categorized among genes that may regulate the extracellular matrix or other structural components necessary for maintaining the eye's shape. Understanding these biological pathways is a primary goal for researchers aiming to clarify why some individuals are more prone to developing myopia during school-age years.
Evidence and Associations
The association between rs1113588 and refractive error is supported by international consortia, such as the Consortium for Refractive Error and Myopia (CREAM). These studies aggregate data from thousands of participants to identify genetic signals that reach statistical significance. However, it is important to note that the evidence strength for this specific variant is currently considered limited. While it appears in catalogs of refractive error-associated loci, the individual effect size of this SNP is small. Like many variants identified in GWAS, rs1113588 likely contributes only a tiny fraction to the overall risk of myopia. Myopia is a complex trait influenced by a combination of numerous genetic variants, environmental factors, and gene-environment interactions, meaning no single SNP can reliably predict an individual's vision outcome.
Population Frequency
Genetic variants like rs1113588 are distributed differently across global populations. Current data indicates that the minor allele frequency for this variant is approximately 0.32 in populations of European ancestry. This means that a significant portion of the population carries at least one copy of the minor allele. Because frequency can vary substantially between different ethnic and geographic groups, researchers emphasize the importance of multi-ancestry studies to ensure that genetic findings are applicable across diverse populations. The prevalence of this variant highlights that it is a common polymorphism rather than a rare mutation, which is typical for markers identified in studies of common, complex traits like refractive error.
Interpreting Genetic Information
It is essential to understand that having a specific genotype at the rs1113588 locus does not constitute a medical diagnosis. Genetic associations identified in research studies describe statistical trends across large groups of people, not individual clinical outcomes. Because myopia is influenced by a wide array of factors—including time spent outdoors, near-work habits, and hundreds of other genetic variants—this information cannot be used to predict whether a person will develop myopia. If you have concerns about your vision or the vision of a family member, the most effective approach is to consult with an optometrist or ophthalmologist. These professionals can provide comprehensive eye exams and evidence-based guidance on vision health, which is far more informative than any single genetic marker.
How common is this variant?
The minor allele frequency for rs1113588 is approximately 0.32 in individuals of European ancestry.
Frequently asked questions
Does having the rs1113588 variant mean I will get myopia?
No. This variant is only one of many genetic factors associated with refractive error, and its individual effect is very small. Myopia is a complex condition influenced by many genes and environmental factors, not a single SNP.
Can I use this genetic information to prevent nearsightedness?
There is no evidence that knowing your genotype for this variant can be used to prevent myopia. You should focus on established clinical advice, such as regular eye exams and healthy visual habits, as recommended by your eye care professional.
Is rs1113588 a 'myopia gene'?
It is more accurate to call it a genetic marker associated with refractive error. It is located near or within the METTL21B gene, which researchers study for its potential role in eye development, but it is not a 'cause' of myopia in a direct sense.
Where can I find more information about my eye health?
For reliable information regarding your vision, you should consult an optometrist or ophthalmologist. They can provide personalized care and explain how your specific eye health history relates to your risk of developing refractive errors.
Sources & further reading
Educational information only, last refreshed 9/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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