HTRA1 rs17103569: What Your Genotype Means
The rs17103569 variant is a single-nucleotide polymorphism found in the HTRA1 gene. Scientific research has identified this variant as a tagging SNP with a nominal statistical association with the risk of developing myopia.
What each genotype means
Typical HTRA1 profile
This is the common genotype at this position in the HTRA1 gene. It is not strongly associated with significant changes in myopia risk according to current research.
This genotype is common in most populations.
Nominal myopia association
You carry one copy of a variant in the HTRA1 gene that has shown a nominal statistical association with myopia risk. Because this evidence is limited and based on population averages, it does not serve as a diagnostic tool for your personal vision. Regular eye exams are the best way to manage your eye health.
This genotype is found at varying frequencies depending on ancestral background.
Potential myopia association
You carry two copies of a variant in the HTRA1 gene that has been nominally associated with myopia risk in some studies. These associations are statistical in nature and do not account for the many other factors that influence vision. Please consult your eye care professional for personalized vision care.
The frequency of this genotype varies by population.
What is the rs17103569 Variant?
The rs17103569 variant is a single-nucleotide polymorphism (SNP) located within the HTRA1 gene. In the context of genomics, a SNP is a variation at a single position in a DNA sequence among individuals. This specific variant is often categorized as a tagging SNP, meaning it is used by researchers to represent a larger block of genetic variation in a specific region of the genome. By studying these markers, scientists can identify genomic regions that may be associated with complex traits like myopia. It is important to understand that being a tagging SNP does not necessarily imply that rs17103569 is the direct cause of any biological change; rather, it acts as a statistical indicator that helps researchers focus their efforts on specific areas of the HTRA1 gene that might influence eye health.
The Function of the HTRA1 Gene
The HTRA1 gene encodes the high-temperature requirement A serine peptidase 1 protein. This protein functions as a serine protease, an enzyme that breaks down other proteins. It is involved in regulating the extracellular matrix, which is the structural scaffolding that provides support to cells and tissues throughout the body. In the eye, the integrity of the extracellular matrix is essential for maintaining the shape and refractive properties of the ocular structures. Because myopia is often characterized by an elongation of the eyeball, researchers have long hypothesized that genes involved in the structural maintenance of the eye, such as HTRA1, could play a role in the development of nearsightedness. While the gene's role in other eye conditions like age-related macular degeneration is well-documented, its specific contribution to the complex development of myopia remains an active area of scientific inquiry.
Evidence and Statistical Associations
Research, including recent studies published in the British Journal of Ophthalmology, has reported a nominal association between the rs17103569 variant and myopia risk. In scientific terms, a nominal association suggests that a statistical link was observed, but the evidence is considered limited and requires further validation across larger and more diverse populations. It is vital to interpret these findings with caution. Genetic associations are based on population-level data and do not provide a diagnosis or a prediction for an individual's health. Myopia is a multifactorial condition, meaning it is influenced by a combination of genetic predispositions and environmental factors, such as education, near-work, and time spent outdoors. Because of this complexity, no single genetic variant can be used to determine an individual's likelihood of becoming nearsighted.
Interpreting Genetic Information
The frequency of the rs17103569 variant is known to vary across different ancestral populations. This variation is a common feature of human genetics and is one reason why findings from one study may not be directly applicable to everyone. Because the evidence linking this variant to myopia is limited, it is not currently used in clinical settings for risk assessment or diagnostic purposes. Readers should view this information as part of the broader effort to understand the genetic architecture of human traits. If you are interested in your own eye health, the most reliable information will come from a professional eye examination. Genetic testing for common variants like rs17103569 is not a substitute for clinical care, and you should always discuss any concerns about your vision with a qualified optometrist or ophthalmologist.
How common is this variant?
The frequency of the rs17103569 variant varies by population, and there is no single global frequency that applies to all individuals.
Frequently asked questions
Does this variant cause myopia?
No. The variant is associated with myopia in some statistical studies, but it is not considered a direct cause. Myopia is a complex trait with many contributing factors.
Can I use this SNP to predict if my child will be nearsighted?
No. Genetic testing for this variant is not a valid tool for predicting myopia risk in children or adults. Eye health is best managed through regular professional exams.
Is this variant linked to other eye conditions?
The HTRA1 gene is associated with age-related macular degeneration. However, rs17103569 is specifically noted in research for its nominal association with myopia.
What should I do if I have this variant?
No specific action is required. This variant is a common genetic marker and does not provide actionable medical information. Continue to follow standard eye care advice.
Sources & further reading
Educational information only, last refreshed 11/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the HTRA1 gene is significantly associated with a reduced risk of myopia, particularly in moderate myopia cases.
A tagging SNP in the HTRA1 gene showing nominal association with myopia and significant association with moderate myopia.
Promoter variant in HTRA1/ARMS2 associated with age-related macular degeneration.
This variant is linked to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).