RSPO1 rs11867160: What Your Genotype Means
The genetic variant rs11867160 is located near the RSPO1 gene, which plays a critical role in cellular signaling pathways. Research has linked this region to ocular development and potential susceptibility to open-angle glaucoma through its influence on Wnt/beta-catenin signaling.
What each genotype means
Typical glaucoma risk profile
This genotype represents the most common genetic configuration at this location. Research suggests that individuals with this profile do not carry the specific genetic variation associated with altered Wnt/beta-catenin signaling in the trabecular meshwork. This is considered the baseline state for this variant in the general population.
Carried by approximately 65-70% of people of European ancestry.
Increased glaucoma risk marker
This genotype indicates the presence of one copy of the variant associated with potential changes in Wnt/beta-catenin signaling pathways. While this variant is implicated in open-angle glaucoma risk, the evidence remains limited and the clinical impact for an individual is not definitive. You should discuss your overall eye health and family history with an ophthalmologist.
Carried by roughly 1 in 3 to 1 in 4 people of European ancestry.
Elevated glaucoma risk marker
This genotype indicates the presence of two copies of the variant associated with potential changes in Wnt/beta-catenin signaling pathways. Current research identifies this as a risk-associated marker for open-angle glaucoma, though the overall evidence strength is limited. This finding should be interpreted in the context of your broader clinical profile and regular eye examinations.
Carried by approximately 2-4% of people of European ancestry.
Understanding rs11867160
The variant rs11867160 is a single nucleotide polymorphism (SNP) situated in the human genome near the RSPO1 gene. In genetics, a SNP represents a variation at a single position in a DNA sequence among individuals. This specific variant is categorized within the field of vision research. While it is not a gene itself, its proximity to RSPO1 suggests it may influence how this gene is regulated or expressed. Scientists study such variants to understand the complex genetic architecture underlying common eye conditions. Because this variant is located in a non-coding region, it likely acts as a regulatory element, potentially altering the efficiency with which the nearby gene is turned on or off in specific tissues, such as those found in the eye.
The Role of RSPO1
The RSPO1 gene encodes the R-spondin 1 protein, which serves as a vital ligand for LGR receptors. Its primary function is to positively regulate the Wnt/beta-catenin signaling pathway, a fundamental biological process involved in cell proliferation, differentiation, and tissue maintenance. In the context of the eye, this pathway is essential for proper ocular development and the regulation of intraocular pressure. The trabecular meshwork, a tissue responsible for draining fluid from the eye, relies on precise signaling to maintain healthy pressure levels. Disruptions in Wnt signaling, potentially influenced by variants near RSPO1, have been implicated in the pathogenesis of primary open-angle glaucoma. By modulating this pathway, RSPO1 helps ensure the structural and functional integrity of ocular tissues throughout a person's life.
Evidence and Associations
The evidence linking rs11867160 to glaucoma is currently considered limited. While genome-wide association studies (GWAS) have identified correlations between this genomic region and traits like axial length of the eye and intraocular pressure, these findings do not establish a direct cause-and-effect relationship. Glaucoma is a multifactorial condition influenced by a combination of genetic, environmental, and lifestyle factors. Statistical associations observed in research cohorts indicate that this variant may contribute to a small portion of the overall risk, but it is not a diagnostic marker. Because the evidence is evolving, it is important to view these findings as part of a broader, ongoing scientific investigation rather than a definitive prediction of health outcomes. Further research is required to fully elucidate the functional impact of this specific variant.
Interpreting Your Information
If you have information about your genotype for rs11867160, it is important to understand that this data is for educational purposes only. Genetic variants are just one piece of a very large puzzle regarding eye health. You cannot use this information to diagnose yourself with glaucoma or any other condition. If you are concerned about your vision or have a family history of eye disease, the most effective step is to consult with an eye care professional, such as an ophthalmologist or optometrist. They can perform comprehensive clinical exams that provide a much more accurate assessment of your eye health than genetic testing alone. Never make changes to your health management or medical care based on genetic reports without first discussing them with a qualified healthcare provider.
How common is this variant?
The minor allele frequency for rs11867160 is approximately 15-20% in European populations, though frequencies can vary significantly across different global ancestries.
Frequently asked questions
Does having the rs11867160 variant mean I will get glaucoma?
No. Genetic variants like rs11867160 are associated with statistical risk, not certainty. Glaucoma is a complex disease influenced by many genetic and environmental factors.
What is the RSPO1 gene responsible for?
RSPO1 encodes a protein that regulates the Wnt signaling pathway. This pathway is crucial for cell development and maintaining healthy fluid pressure within the eye.
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 reliable way to monitor your eye health.
Where can I find more information about this variant?
You can search for rs11867160 on the NCBI dbSNP database or the GWAS Catalog. These resources provide technical details on published research studies.
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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