What you carry at this position in your DNA and what research says about it.
Glaucoma Risk: 8/10 evidence, 25 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): C/C
Lower Glaucoma Risk but Higher Cardiovascular Risk
Carrying two copies of the C allele is associated with a lower risk of developing open-angle glaucoma. However, this same genetic profile is linked to slightly higher blood pressure and an increased risk of coronary artery disease.
What this genotype means: Lower risk of open-angle glaucoma; Slightly higher blood pressure; Increased risk of coronary artery disease.
Sample genotype (not yours): C/T
Typical Glaucoma and Cardiovascular Risk Profile
Carrying one copy of each allele provides a balanced, intermediate genetic influence on both eye and heart health. Risks for glaucoma, blood pressure elevation, and heart disease remain close to the population average.
What this genotype means: Typical risk of open-angle glaucoma; Typical blood pressure and heart disease risk; Moderate association with parental longevity.
Sample genotype (not yours): T/T
Higher Glaucoma Risk but Favorable Cardiovascular Profile
Carrying two copies of the T allele is linked to an increased risk of developing open-angle glaucoma and allergic diseases. On the positive side, this profile is associated with lower blood pressure and reduced heart disease risk.
What this genotype means: Increased risk of open-angle glaucoma; Lower blood pressure and heart disease risk; Slightly higher risk of allergic diseases.
Gene function and biological role
Gene Function: The ATXN2 gene encodes the ataxin-2 protein, which plays a crucial role in regulating RNA translation and cellular stress responses [1]. Normal variations in this gene typically involve a specific number of CAG trinucleotide repeats, but expansions beyond the normal range are famously linked to neurodegenerative disorders like spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis [2]. Beyond these rare repeat expansions, common single-nucleotide variations within ATXN2 are increasingly recognized for their influence on systemic health. Research indicates that ataxin-2 is highly expressed in the retina and optic nerve head, where it helps maintain the survival of retinal ganglion cells [3]. Consequently, common variants in this gene can alter susceptibility to optic nerve degeneration and vascular conditions.
Variant Impact: The rs7137828 variant is an intronic change located within the ATXN2 gene on chromosome 12. Because it resides in an intron, it does not directly alter the amino acid sequence of the ataxin-2 protein, but instead likely influences how the gene is expressed in various tissues. Large-scale genetic analyses have robustly linked this specific variant to primary open-angle glaucoma, highlighting its role in ocular neurodegeneration [3]. Interestingly, the same genetic change exhibits pleiotropic effects, meaning it simultaneously influences cardiovascular traits, blood pressure regulation, and even human lifespan [1]. This creates a complex biological trade-off where the allele that protects against eye disease slightly increases the risk of heart-related conditions.
Key Insight: This genetic variant presents a direct biological trade-off, where the allele that increases the risk of glaucoma actually protects against high blood pressure and coronary artery disease.
Location: ATXN2. Chromosome 12 · 12q24.12 · 111.5 Mb
Estimated prevalence by population
Global 14.2%; European 23.8%; African 0.7%; East Asian < 0.1%; South Asian 0.9%; Americas 8.6%; Ashkenazi 44.9%; Finnish 16.5%; Middle Eastern 14.0%; Amish 21.0%.
Estimated CC genotype frequency.
Global 36.5%; European 50.0%; African 15.1%; East Asian 0.4%; South Asian 17.0%; Americas 41.5%; Ashkenazi 44.2%; Finnish 48.2%; Middle Eastern 46.8%; Amish 49.7%.
Estimated CT genotype frequency.
Global 49.3%; European 26.2%; African 84.3%; East Asian 99.6%; South Asian 82.1%; Americas 49.9%; Ashkenazi 10.9%; Finnish 35.3%; Middle Eastern 39.2%; Amish 29.3%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Organ Systems
Vision & Eye Health
Open-Angle Glaucoma. Evidence: 8/10. Source: PMID 26752265. Lower Risk.
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Increased Risk.
Hypertension
Blood Pressure. Evidence: 9/10. Source: PMID 27841878. Slightly Higher.
Lifestyle, Fitness & Aging
Aging & Longevity
Parental Longevity. Evidence: 7/10. Source: PMID 29227965. Linked to Longevity.
Immunity & Inflammation
Allergy & Hypersensitivity
Allergic Disease. Evidence: 6/10. Source: PMID 29083406. Lower Risk.
Showing effects for C/T genotype
Open-Angle Glaucoma. Evidence: 8/10. Source: PMID 26752265. Typical Risk.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Typical Risk.
Blood Pressure. Evidence: 9/10. Source: PMID 27841878. Typical.
Allergic Disease. Evidence: 6/10. Source: PMID 29083406. Typical Risk.
Showing effects for T/T genotype
Open-Angle Glaucoma. Evidence: 8/10. Source: PMID 26752265. ~1.7x Higher Risk.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Lower Risk.
Blood Pressure. Evidence: 9/10. Source: PMID 27841878. Slightly Lower.
Parental Longevity. Evidence: 7/10. Source: PMID 29227965. Typical.
Allergic Disease. Evidence: 6/10. Source: PMID 29083406. Slightly Higher Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Ocular health is significantly favored by this genetic combination, which is associated with a reduced susceptibility to primary open-angle glaucoma [1]. This protective effect is thought to stem from optimal ataxin-2 expression in the retinal ganglion cells, preserving optic nerve resilience against pressure-induced damage [1]. Conversely, a distinct biological trade-off exists for cardiovascular health. Studies show that this profile correlates with slightly elevated systolic and diastolic blood pressure [2]. Additionally, there is a modest increase in the risk of developing coronary artery disease [3]. Despite these cardiovascular challenges, large-scale cohort studies have paradoxically linked this specific genotype to increased parental longevity, suggesting a complex relationship with overall lifespan [4].
Lower risk of open-angle glaucoma; Slightly higher blood pressure; Increased risk of coronary artery disease.
Sample genotype: CT (Heterozygous)
Having a heterozygous genetic profile results in an intermediate risk level that closely mirrors the general population average for several major health traits. Susceptibility to primary open-angle glaucoma is neither significantly elevated nor reduced, representing a baseline level of risk [1]. Similarly, blood pressure measurements and the likelihood of developing coronary artery disease remain typical [2] [3]. This balanced state extends to other systemic traits, including blood cell counts and immune responses, which do not show extreme variations. However, carrying at least one copy of the C allele still provides a partial positive association with parental longevity [4].
Typical risk of open-angle glaucoma; Typical blood pressure and heart disease risk; Moderate association with parental longevity.
Sample genotype: TT (Homozygous)
Susceptibility to primary open-angle glaucoma is significantly higher with this genetic profile, with studies indicating up to a 1.7-fold increased risk compared to other genotypes [1]. The ataxin-2 protein is highly active in the optic nerve, and this variant may compromise the survival of retinal ganglion cells under physiological stress [2]. In addition to ocular risks, there is a slight increase in susceptibility to allergic conditions such as hay fever and eczema [3]. Fortunately, a highly favorable cardiovascular profile serves as a major counterweight to these risks. This genotype is consistently associated with lower systolic and diastolic blood pressure readings [4]. Furthermore, the risk of developing coronary artery disease is lower, offering a natural protective effect against heart-related events [5].
Increased risk of open-angle glaucoma; Lower blood pressure and heart disease risk; Slightly higher risk of allergic diseases.
Variants with shared genetic architecture
rs653178 · ATXN2 Gene · Chr 12 · Autoimmune and Heart Health
rs10774625 · ATXN2 Gene · Chr 12 · Cardiovascular Health
rs4766578 · ATXN2 Gene · Chr 12 · Heart Disease Risk
Multivariate genomic scan implicates novel loci and haem metabolism in human ageing.
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants.
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com