IGF1 rs10860860: What Your Genotype Means
The rs10860860 variant is a single nucleotide polymorphism located within the IGF1 gene. It has been studied for potential associations with high-grade myopia, though research findings across different populations remain inconsistent.
What each genotype means
Typical refractive risk profile
You carry two copies of the major A allele at this regulatory locus downstream of the IGF1 gene. In genetic studies of refractive error, this baseline genotype has not demonstrated increased susceptibility to high-grade myopia relative to the alternative allele. However, because myopia is a complex trait driven by many genetic and lifestyle factors, regular eye evaluations remain appropriate.
Carried by approximately 50% to 55% of individuals of European ancestry and at similar or higher frequencies in East Asian populations.
Modestly altered myopia risk
You carry one copy of the T allele for this IGF1 regulatory marker. Initial family-based studies in individuals of European ancestry linked the minor allele to a modest shift in risk for high myopia, though subsequent studies across different European, Polish, and East Asian cohorts yielded mixed results or failed to replicate a direct single-marker effect. This variant provides only a minor contribution to overall ocular growth susceptibility and is not diagnostic.
Carried by roughly 40% of people of European ancestry and is moderately common across diverse global populations.
Alternative regulatory genotype
You carry two copies of the minor T allele near the IGF1 gene. Research investigating refractive errors has explored this genotype for associations with ocular axial growth and high-grade myopia, but findings across global populations remain conflicting and inconclusive. Having this genotype does not confirm that you will develop severe myopia, as refraction is heavily shaped by polygenic background and visual environment.
Carried by approximately 7% to 10% of individuals of European ancestry; it occurs less frequently in several East Asian cohorts.
Understanding the rs10860860 Variant
The rs10860860 variant is a specific genetic change, or single nucleotide polymorphism (SNP), located within the IGF1 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This particular variant is situated in a region of the gene that may influence how the gene is regulated or expressed. Scientists study such variants to determine if they contribute to observable traits or disease susceptibility. Because rs10860860 is located in a gene involved in growth processes, it has been a subject of interest for researchers investigating complex conditions that involve structural changes in the body, such as the elongation of the eye associated with myopia.
The Role of the IGF1 Gene
The IGF1 gene encodes the insulin-like growth factor 1 protein, which is structurally similar to insulin. This protein plays a critical role in promoting growth and development throughout the body. In the context of ocular health, IGF-1 is known to influence the growth of various eye tissues. Experimental models have suggested that IGF-1 may promote ocular growth and axial elongation, which are key factors in the development of myopia. Because of this biological function, researchers have hypothesized that variations in the IGF1 gene might influence an individual's susceptibility to refractive errors. However, the relationship between specific genetic variants and complex eye conditions is often influenced by many genes and environmental factors, making the exact contribution of any single variant difficult to isolate.
Research and Evidence Strength
The evidence linking rs10860860 to high-grade myopia is considered moderate and inconsistent. Early studies in certain Caucasian cohorts suggested a potential genetic association between IGF1 polymorphisms and high-grade myopia. However, subsequent replication studies in different populations, including Polish families and various Asian cohorts, have often failed to find a statistically significant link. These conflicting results highlight the complexity of genetic associations, where findings in one group may not be replicated in another due to differences in genetic background, environmental exposures, or study design. Consequently, while IGF1 remains a candidate gene for further investigation, rs10860860 is not currently considered a definitive diagnostic marker for myopia, and further large-scale research is required to clarify its role.
Population Frequency
The frequency of the rs10860860 variant varies across different ancestral populations. In European populations, the minor allele frequency is approximately 0.35. Because allele frequencies can differ significantly between ethnic groups, researchers must account for these variations when conducting genetic association studies to ensure that findings are not skewed by population stratification.
Interpreting Genetic Information
It is important to understand that genetic variants like rs10860860 are only one piece of a much larger puzzle. Myopia is a complex trait influenced by a combination of genetic, environmental, and lifestyle factors, such as time spent on near-work activities or outdoor time. Having a specific genotype for this variant does not mean an individual will or will not develop myopia. This information is intended for educational purposes and should not be used for medical diagnosis or to predict personal health outcomes. If you have concerns about your vision or eye health, the most appropriate course of action is to consult with an optometrist or ophthalmologist. They can provide comprehensive eye exams and evidence-based guidance tailored to your specific clinical needs.
How common is this variant?
The minor allele frequency for rs10860860 is approximately 0.35 in European populations, though frequencies can vary across different global ancestries.
Frequently asked questions
Is rs10860860 a cause of myopia?
No, rs10860860 is not considered a direct cause of myopia. While it has been studied as a potential genetic marker, myopia is a complex condition influenced by many genetic and environmental factors.
Should I get tested for this variant?
There is no clinical utility in testing for this variant to predict myopia. Genetic testing for common, complex traits is generally not recommended for individual health management.
Why do studies show different results for this SNP?
Inconsistent results are common in genetic research due to differences in study populations, sample sizes, and the complex nature of how genes interact with the environment. What is found in one population may not be replicated in another.
What should I do if I have a high-risk genotype?
Genetic associations for complex traits like myopia are not diagnostic. You should focus on regular eye exams with a qualified professional rather than focusing on individual genetic variants.
Sources & further reading
Educational information only, last refreshed 10/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Common promoter variant associated with circulating insulin-like growth factor 1 (IGF-1) concentrations, muscle mass development, and longevity phenotypes.
Polymorphism within the IGF1 locus associated with baseline muscle strength, circulating IGF-1 concentrations, and post-exercise muscle hypertrophy.
A variant in the IGF1 gene that has been investigated for its role in ocular axial elongation and myopia susceptibility, though results remain population-dependent.
Polymorphism in the IGF1 gene region linked to risk of extreme myopia.
Variant in IGF1 associated with high-grade axial myopia and ocular axial elongation.
This SNP is identified as an instrumental variable in Mendelian randomization studies investigating the causal relationship between IGF-1 levels and vitamin D status.