CYP1B1 rs104894467: Understanding the p.Gly61Glu Variant
The rs104894467 variant in the CYP1B1 gene is a specific genetic change known as p.Gly61Glu. It is primarily associated with primary congenital glaucoma, a condition affecting eye development and pressure.
What each genotype means
Typical CYP1B1 function
This genotype represents the most common sequence for this location in the CYP1B1 gene. It is not associated with the pathogenic p.Gly61Glu mutation linked to primary congenital glaucoma.
This is the most common genotype found in the general population across all ancestries.
Carrier of glaucoma-associated variant
This genotype indicates you carry one copy of the p.Gly61Glu variant. While this variant is classified as pathogenic for primary congenital glaucoma, the condition typically follows a recessive inheritance pattern, meaning carriers often do not exhibit the disease phenotype.
This genotype is rare in the general global population, though it is more frequently observed in specific founder populations within the Mediterranean and Middle Eastern regions.
Increased risk for glaucoma
This genotype indicates you carry two copies of the p.Gly61Glu variant. This specific mutation is a well-documented cause of primary congenital glaucoma, particularly in Middle Eastern and European pedigrees. Please consult with a medical geneticist or ophthalmologist to discuss clinical implications and appropriate eye health monitoring.
This genotype is extremely rare in the global population, with a frequency significantly lower than 0.0002.
What is rs104894467?
The variant rs104894467, often referred to by its protein change p.Gly61Glu, is a missense mutation located within the CYP1B1 gene. In genetics, a missense variant occurs when a single nucleotide change results in the substitution of one amino acid for another in the final protein product. Specifically, this variant involves a change at position 61 of the CYP1B1 protein, where glycine is replaced by glutamic acid. This alteration can potentially impact the structure and function of the enzyme produced by the gene. Because this variant is located in a region of the gene critical for normal enzymatic activity, researchers have focused on how this specific change might disrupt the biological pathways necessary for maintaining healthy eye pressure and development.
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 hormones and certain drugs. However, in the context of the eye, CYP1B1 plays a specialized role in the development of the trabecular meshwork, the drainage system that regulates fluid pressure within the eye. When this gene is defective, the drainage system may not form correctly, leading to an increase in intraocular pressure. This pressure can damage the optic nerve, which is the primary mechanism behind primary congenital glaucoma. Understanding the function of this gene is essential for researchers studying how genetic variations contribute to inherited eye conditions.
Research and Clinical Associations
Scientific research has identified the p.Gly61Glu variant as a pathogenic factor in cases of primary congenital glaucoma. Clinical databases, such as ClinVar, classify this specific change as pathogenic, meaning it is strongly linked to the development of the disease. Studies have shown that this variant is particularly prevalent in certain pedigrees, including those of Middle Eastern and European descent. While the evidence is robust regarding its association with the condition, it is important to note that primary congenital glaucoma is a complex, often autosomal recessive disorder. This means that an individual typically needs to inherit the variant from both parents to manifest the condition. Because this is a clinical association, individuals with concerns about their eye health or family history should consult with an ophthalmologist or a genetic counselor for professional evaluation.
Population Frequency
The rs104894467 variant is considered rare in the general global population, with a minor allele frequency (MAF) typically reported as less than 0.0002 in databases like gnomAD. However, frequency can vary significantly based on ancestry. The variant is notably enriched in specific founder populations, particularly within the Mediterranean and Middle Eastern regions. In these groups, the higher prevalence is often attributed to historical population dynamics. Because the variant is rare globally, it is not a standard marker included in routine health screenings. Its presence is usually investigated only when there is a specific clinical suspicion of congenital glaucoma or as part of targeted research into inherited eye diseases within specific families or communities.
Navigating Genetic Information
Learning about a genetic variant like rs104894467 can be informative, but it is vital to understand the limitations of this information. Genetic testing results should never be used to self-diagnose or make medical decisions without the guidance of a qualified healthcare professional. If you or a family member have concerns about glaucoma, a clinical eye examination is the most reliable way to assess eye health. Genetic information provides context, but it does not replace the diagnostic expertise of a clinician. If you have received a report mentioning this variant, consider discussing the findings with a genetic counselor who can explain the implications in the context of your personal and family medical history. They can provide clarity on what the results mean for you and your family members.
How common is this variant?
The variant is rare globally with a minor allele frequency below 0.0002, though it shows higher enrichment in specific Mediterranean and Middle Eastern founder populations.
Frequently asked questions
What is primary congenital glaucoma?
Primary congenital glaucoma is a rare eye condition present at birth or developing in early childhood. It is caused by abnormal development of the eye's drainage system, leading to increased pressure that can damage the optic nerve.
Does having the rs104894467 variant mean I have glaucoma?
Not necessarily. This variant is associated with an increased risk, but the condition is complex and often requires inheriting the variant from both parents. A clinical diagnosis can only be made by an eye specialist.
Should I get tested for this variant?
Genetic testing for this variant is generally only recommended if there is a family history of congenital glaucoma or if a clinician suspects the condition. You should discuss the necessity of testing with a genetic counselor.
Is there a cure for CYP1B1-related glaucoma?
While there is no cure for the underlying genetic cause, primary congenital glaucoma is managed through surgical interventions to improve fluid drainage and medical therapies to lower eye pressure. Early detection is key to preserving vision.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs104894467?
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 CYP1B1
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 missense variant in CYP1B1 (p.Ala119Ser) associated with primary congenital glaucoma and juvenile open-angle glaucoma risk.
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.