CAV1 rs4236601: Understanding Your Genetic Risk for Glaucoma
The rs4236601 variant is a single nucleotide polymorphism located in an intronic region near the CAV1 and CAV2 genes. Research has identified this variant as being statistically associated with an increased risk of developing primary open-angle glaucoma.
What each genotype means
Increased glaucoma risk profile
This genotype is associated with a higher statistical risk for primary open-angle glaucoma compared to other genotypes at this location. Because the evidence for this variant is limited, this finding should be viewed as a small piece of a much larger genetic and environmental puzzle regarding eye health.
Carried by approximately 7% of individuals of European ancestry, based on an allele frequency of roughly 0.26.
Intermediate glaucoma risk profile
You carry one copy of the allele associated with increased risk for primary open-angle glaucoma. Research suggests that the influence of this variant on eye health is modest, and it does not determine whether you will develop the condition.
Carried by roughly 38% of individuals of European ancestry.
Baseline glaucoma risk profile
You do not carry the specific allele at this location that has been linked to an increased risk of primary open-angle glaucoma. This genotype represents the baseline state for this variant in the context of current research studies.
Carried by approximately 55% of individuals of European ancestry.
What is rs4236601?
The rs4236601 variant is a specific change in the DNA sequence, known as a single nucleotide polymorphism (SNP), located on chromosome 7 at position 7q31.2. This region is home to the CAV1 and CAV2 genes, which are positioned adjacent to one another. Because rs4236601 is found in an intronic region—a non-coding part of the gene—it is considered a regulatory variant. This means it does not change the protein structure itself but may influence how much of the CAV1 or CAV2 proteins are produced or when they are expressed in the body. Scientists study such variants to understand how subtle differences in our genetic code can contribute to complex, multi-factorial conditions like glaucoma, which involves the gradual damage of the optic nerve.
The Role of CAV1 and CAV2
The CAV1 and CAV2 genes provide instructions for creating caveolin-1 and caveolin-2 proteins. These proteins are essential components of caveolae, which are small, flask-shaped indentations in the cell membrane. Caveolae play a critical role in various cellular processes, including signal transduction, lipid regulation, and the maintenance of cell structure. By forming a stable hetero-oligomeric complex, these proteins help regulate signaling pathways that are vital for cell health. In the context of the eye, the proper function of these proteins is thought to be important for maintaining the health of the optic nerve and regulating intraocular pressure. Disruptions in these pathways are hypothesized to contribute to the pathogenesis of primary open-angle glaucoma, although the exact biological mechanism linking this specific SNP to the disease remains an active area of investigation.
Research and Evidence Strength
The association between rs4236601 and primary open-angle glaucoma (POAG) was first identified through large-scale genome-wide association studies (GWAS). Research has consistently shown a statistical link between the presence of the A allele and an increased risk of POAG. However, the strength of this evidence is considered limited in terms of clinical predictability. Studies have noted that the association can be variable across different populations and may be more pronounced in specific subgroups, such as women or those with early paracentral visual field defects. Because glaucoma is a complex disease influenced by many genetic and environmental factors, possessing this variant does not guarantee the development of the condition. Current research continues to refine our understanding of how this locus interacts with other genetic and non-genetic factors to influence eye health.
What You Can Do With This Information
It is important to understand that genetic variants like rs4236601 are only one piece of a much larger puzzle regarding eye health. This information is intended for educational purposes and should not be used to diagnose or predict your personal risk of developing glaucoma. If you are concerned about your vision or have a family history of glaucoma, the most effective step is to schedule a comprehensive eye examination with an ophthalmologist or optometrist. They can perform clinical tests, such as measuring intraocular pressure and examining the optic nerve, which are the standard methods for monitoring eye health. Do not make any changes to your health management or medication based on genetic data without first consulting with a qualified healthcare professional who can interpret these results in the context of your overall medical history.
How common is this variant?
The A allele frequency is approximately 0.26 in European populations and approximately 0.05 in African populations, indicating significant variation in prevalence across different ancestries.
Frequently asked questions
Does having the rs4236601 variant mean I will get glaucoma?
No, having this variant does not mean you will develop glaucoma. It is only one of many genetic and environmental factors that contribute to the risk of the disease.
Should I get tested for the rs4236601 variant?
Genetic testing for this specific variant is not a standard clinical practice for diagnosing glaucoma. Regular eye exams are the most reliable way to monitor your eye health.
Is this variant linked to other eye conditions?
The primary association identified in research is with primary open-angle glaucoma. There is no strong evidence linking this specific SNP to other common eye conditions.
Can I change my risk if I have this variant?
While you cannot change your genetics, you can manage your overall eye health by attending regular screenings. Early detection through professional eye exams is the best way to manage glaucoma risk.
Sources & further reading
Educational information only, last refreshed 10/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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