CDKN2B-AS1 rs1063192: What Your Genotype Means
The rs1063192 variant is a single nucleotide polymorphism located within the CDKN2B-AS1 gene region. It has been identified in various studies as being associated with optic nerve morphology, specifically the cup-to-disc ratio, and susceptibility to primary open-angle glaucoma.
What each genotype means
Typical optic disc structure
This genotype is associated with standard measurements of the optic nerve cup-to-disc ratio in many population studies. While this variant is linked to glaucoma susceptibility, this specific genotype does not carry the increased risk associated with the alternative allele. Please note that glaucoma risk is multifactorial and influenced by many genetic and environmental factors.
This is a common genotype found in a significant portion of the global population, with frequencies varying by ancestry.
Intermediate optic disc profile
Individuals with this genotype carry one copy of the variant associated with variations in the optic nerve cup-to-disc ratio. Research suggests this variant may influence susceptibility to primary open-angle glaucoma, though the evidence remains limited and results can vary between different ethnic groups. Discuss any concerns regarding eye health or glaucoma screening with your ophthalmologist.
This heterozygous genotype is frequently observed in populations of European and East Asian descent.
Increased glaucoma risk marker
This genotype is associated with a higher optic nerve cup-to-disc ratio, a trait that has been linked to an increased susceptibility to primary open-angle glaucoma in some research studies. Because this association is complex and influenced by other genetic and non-genetic factors, this result should not be interpreted as a diagnosis. Regular comprehensive eye examinations are the most effective way to monitor for glaucoma risk.
This genotype is present in a notable percentage of the population, with prevalence rates differing significantly across various ancestral groups.
Understanding the rs1063192 Variant
The rs1063192 variant is a specific genetic marker, or single nucleotide polymorphism (SNP), located in the genomic region of the CDKN2B-AS1 gene. In genetics, a SNP represents a variation at a single position in a DNA sequence among individuals. This particular variant has been the subject of numerous Genome-Wide Association Studies (GWAS) because of its proximity to genes involved in cell cycle regulation. Researchers track these variations to understand how subtle differences in our DNA sequence might correlate with physical traits or disease risks. While rs1063192 is often discussed in the context of eye health, it is important to remember that a single SNP is rarely the sole cause of a complex condition. Instead, it acts as a piece of a much larger puzzle, contributing to the overall genetic architecture that influences how our bodies develop and function over time.
The Role of CDKN2B-AS1
The CDKN2B-AS1 gene, also known as the CDKN2B antisense RNA 1, produces a long non-coding RNA. Unlike protein-coding genes that provide instructions for building cellular machinery, non-coding RNAs often play regulatory roles, helping to control the expression of nearby genes. In this case, CDKN2B-AS1 is situated near the CDKN2B and CDKN2A genes, which are critical for regulating the cell cycle and preventing uncontrolled cell growth. Research suggests that the regulatory activity of this region may influence the health and maintenance of retinal ganglion cells, which are the neurons that transmit visual information from the eye to the brain. By modulating the expression of these neighboring genes, the CDKN2B-AS1 region may indirectly affect the structural integrity of the optic nerve, which is a key factor in maintaining healthy vision throughout a person's life.
Research and Glaucoma Susceptibility
Scientific research has consistently identified the CDKN2B-AS1 region as a locus of interest for primary open-angle glaucoma (POAG). POAG is a complex, multifactorial condition characterized by progressive damage to the optic nerve, often associated with the optic disc's cup-to-disc ratio. Studies have observed that certain alleles at the rs1063192 position correlate with variations in this ratio, which is a clinical measurement used by eye care professionals to assess optic nerve health. However, the evidence strength for this specific variant remains limited in terms of its predictive power for individual clinical outcomes. While meta-analyses have shown statistical associations across different populations, the effect size of this single variant is generally small. It is considered a risk-associated marker rather than a diagnostic tool, meaning it cannot determine whether an individual will develop glaucoma, but rather highlights a biological pathway that warrants further investigation in the context of eye disease.
Interpreting Your Genetic Information
When reviewing genetic data regarding rs1063192, it is essential to maintain a balanced perspective. Genetic associations identified in large-scale studies describe trends across populations, not individual destinies. Because glaucoma is a complex disease influenced by a combination of genetic, environmental, and lifestyle factors, having a specific genotype does not mean you will or will not develop the condition. You cannot use this information to diagnose yourself or to predict your future health outcomes. If you are concerned about your eye health or have a family history of glaucoma, the most effective step is to schedule a comprehensive eye examination with an ophthalmologist or optometrist. These professionals can perform clinical assessments, such as measuring intraocular pressure and evaluating the optic nerve, which are far more accurate for managing eye health than relying on a single genetic variant.
How common is this variant?
The rs1063192 variant is relatively common, with a minor allele frequency of approximately 0.35 in European populations and 0.15 in East Asian populations.
Frequently asked questions
Does having the rs1063192 variant mean I will get glaucoma?
No, having this variant does not mean you will develop glaucoma. It is a genetic marker associated with a slight change in risk, but glaucoma is a complex disease influenced by many factors, including age, family history, and eye pressure.
What is the cup-to-disc ratio?
The cup-to-disc ratio is a clinical measurement used by eye doctors to describe the appearance of the optic nerve head. A larger ratio can sometimes be a sign of optic nerve damage, which is why it is monitored during eye exams.
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 effective way to monitor your eye health and detect early signs of disease.
How can I lower my risk of glaucoma?
The best way to manage your risk is to have regular, comprehensive eye exams, especially as you age. Maintaining a healthy lifestyle and discussing your family history with your eye care provider are also important steps.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1063192?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in CDKN2B-AS1
A non-coding variant in the CDKN2B-AS1 locus associated with human longevity and survival beyond 90 years of age.
Non-coding RNA locus SNP associated with endometriosis development through altered regulation of cell cycle progression and local tissue remodeling.
This variant is a well-established risk locus for coronary artery disease and related cardiovascular conditions.
Located in the non-coding CDKN2B-AS1 locus, this variant confers significant risk for normal-tension and primary open-angle glaucoma.
Chromosome 9p21 non-coding regulatory variant conferring increased predisposition to coronary artery disease, myocardial infarction, and intracranial aneurysm.
A regulatory variant at the 9p21 locus strongly associated with coronary artery disease and related vascular traits.