CYP1B1 rs61752480: Understanding This Glaucoma-Linked Variant
The rs61752480 variant is a specific genetic change located within the CYP1B1 gene. It has been studied for its potential association with primary congenital glaucoma and juvenile open-angle glaucoma.
What each genotype means
Typical risk profile
You carry two copies of the standard G allele encoding alanine at position 119 of the CYP1B1 enzyme. This genotype is associated with normal baseline enzyme function and does not confer elevated genetic susceptibility to CYP1B1-related forms of glaucoma. Research indicates typical ocular development without the risk modifications observed with alternative missense alleles.
Found in approximately 90% to 96% of individuals across global populations in gnomAD.
Modestly altered glaucoma risk
You carry one copy of the T allele encoding the p.Ala119Ser missense change in CYP1B1 alongside one typical allele. Biallelic loss-of-function variants in CYP1B1 are well known to cause autosomal recessive primary congenital glaucoma, but the clinical significance of carrying a single p.Ala119Ser allele remains limited and controversial in published literature. Studies suggest heterozygous carriers generally have normal ocular health, though some investigations explore whether it slightly modifies open-angle glaucoma susceptibility.
Carried by approximately 4% to 9% of individuals globally, with varying frequencies across diverse ancestries.
Altered CYP1B1 function
You carry two copies of the T allele encoding the p.Ala119Ser substitution in the CYP1B1 gene. Homozygous or compound heterozygous alterations in CYP1B1 have been evaluated in the context of primary congenital and juvenile open-angle glaucoma, although evidence specifically linking p.Ala119Ser alone to disease penetrance is limited and classified with variable pathogenicity in databases like ClinVar. Because evidence is limited, this finding alone does not establish a diagnosis; individuals with a family history of ocular pressure disorders should discuss routine eye examinations with an eye care specialist.
Rare globally, occurring in fewer than 1 in 400 individuals (under 0.3%) in most population groups.
What is rs61752480?
The variant rs61752480 is a single nucleotide polymorphism (SNP) located in the CYP1B1 gene. In genetic terms, this is a missense variant, meaning the change in the DNA sequence results in a different amino acid being incorporated into the protein structure—specifically, a substitution of alanine to serine at position 119 (p.Ala119Ser). Because proteins are the functional building blocks of our cells, changes in their sequence can sometimes alter how they perform their jobs. This specific variant is cataloged in public databases as a point of interest for researchers investigating the genetic architecture of eye health, particularly regarding conditions that affect intraocular pressure and the development of the optic nerve.
The Role of the CYP1B1 Gene
The CYP1B1 gene provides instructions for making an enzyme that belongs to the cytochrome P450 family. These enzymes are primarily known for their role in metabolizing various substances in the body, including drugs and endogenous compounds like steroids. In the context of the eye, CYP1B1 is highly expressed during development. Research suggests that this enzyme is essential for the normal formation of the trabecular meshwork, the tissue responsible for draining fluid from the eye. When this drainage system is impaired, fluid can build up, leading to increased intraocular pressure. Because of its critical role in ocular development and fluid regulation, variants in this gene are frequently investigated in studies concerning early-onset glaucoma.
Research and Evidence Strength
The association between rs61752480 and glaucoma is currently considered to have limited evidence strength. While the CYP1B1 gene as a whole is well-established as a major contributor to primary congenital glaucoma, not every variant within the gene carries the same clinical weight. Scientific literature often highlights that while some mutations in CYP1B1 are clearly pathogenic, others—like rs61752480—require more robust, large-scale studies to confirm their specific impact on disease risk. Current research often focuses on how these variants might influence the enzyme's activity or stability. It is important to note that glaucoma is a complex, multifactorial condition, and the presence of a single variant does not necessarily guarantee the development of the disease.
Population Frequency
Genetic variants are distributed differently across the globe, and rs61752480 is no exception. According to data from large-scale population studies like gnomAD, the minor allele frequency for this variant typically ranges between 0.02 and 0.05 across various global populations. This indicates that the variant is relatively uncommon but present in a significant number of individuals. Because frequency can vary significantly based on ancestral background, researchers often look at specific cohorts to understand if the variant's impact is consistent across different groups. Understanding these frequencies helps scientists determine whether a variant is a rare mutation or a more common polymorphism that may have a smaller, cumulative effect on health.
Navigating Genetic Information
If you have encountered this variant in a personal genetic report, it is essential to maintain perspective. Genetic testing results are not a medical diagnosis. Because the evidence for rs61752480 is limited, it is not currently used as a definitive clinical tool for predicting glaucoma. If you have concerns about your eye health or a family history of glaucoma, the most appropriate step is to consult with an ophthalmologist or a genetic counselor. They can provide context based on your personal health history and clinical examinations, which are far more predictive of eye health than a single genetic variant. Always discuss any health-related genetic findings with a qualified healthcare professional before making decisions about your care.
How common is this variant?
The minor allele frequency for rs61752480 is approximately 0.02 to 0.05 across global populations, as documented in the gnomAD database.
Frequently asked questions
Does having the rs61752480 variant mean I will get glaucoma?
No. Having a specific genetic variant does not mean you will develop a disease. Glaucoma is a complex condition influenced by many genetic and environmental factors, and the evidence linking this specific variant to glaucoma is currently limited.
What should I do if my genetic report mentions CYP1B1?
You should discuss the report with a healthcare provider, such as an ophthalmologist or a genetic counselor. They can help you understand the clinical relevance of the finding in the context of your overall health and family history.
Is rs61752480 the same as a mutation that causes congenital glaucoma?
While the CYP1B1 gene is associated with primary congenital glaucoma, not all variants in the gene are pathogenic. This specific variant is a missense change, and its exact role in disease development is still being studied by the scientific community.
Where can I find more information about this variant?
You can look up the variant on public databases like the NCBI SNP database (dbSNP) or ClinVar. These resources provide summaries of research findings and the current scientific consensus on specific genetic variants.
Sources & further reading
Educational information only, last refreshed 10/12/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant (p.Asn453Ser, formerly Val432Leu) in the CYP1B1 gene is associated with altered enzyme activity and has been investigated for susceptibility to various cancers, including breast and prostate cancer.
This variant (p.Gly61Glu) is a well-documented pathogenic mutation associated with primary congenital glaucoma (PCG) and is also studied for its role in oxidative stress and drug response pathways.
A well-characterized loss-of-function missense variant causing primary congenital glaucoma through abnormal trabecular meshwork development.
Missense variant in CYP1B1 associated with primary congenital glaucoma.
A classic founder missense mutation in CYP1B1 responsible for early-onset recessive infantile and juvenile glaucoma.
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