What you carry at this position in your DNA and what research says about it.
Heart and Glaucoma Protection: 6/10 evidence, 27 publications.
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Sample genotype (not yours): G/G
Lower Risk of Heart Attack and Glaucoma
Presence of two protective G alleles is associated with a significantly reduced risk of myocardial infarction and open-angle glaucoma.
What this genotype means: Reduced risk of myocardial infarction; Lower susceptibility to open-angle glaucoma; Decreased risk of type 2 diabetes.
Sample genotype (not yours): A/A
Typical Risk of Heart Attack and Glaucoma
Two copies of the common A allele represent the standard genetic baseline for cardiovascular and eye health.
What this genotype means: Standard baseline risk of myocardial infarction; Typical susceptibility to open-angle glaucoma; Standard risk of type 2 diabetes.
Sample genotype (not yours): G/A
Presence of one protective G allele is linked to a decreased risk of heart attacks and open-angle glaucoma.
Gene function and biological role
Gene Function: The CDKN2B gene encodes a cyclin-dependent kinase inhibitor that plays a critical role in regulating the cell cycle and preventing uncontrolled cell division [1]. It is located in the 9p21 region, a well-known genetic hotspot associated with cardiovascular disease, type 2 diabetes, and various cancers [2]. By controlling cell proliferation, the encoded protein helps maintain the structural integrity of blood vessels and supports the survival of retinal ganglion cells [3]. Dysregulation of this gene can lead to abnormal tissue remodeling, contributing to plaque buildup in arteries and optic nerve damage [3].
Variant Impact: Located in the 3 prime untranslated region of the CDKN2B gene, rs1063192 influences gene expression levels [2]. This genetic change alters regulatory binding sites, affecting how much cyclin-dependent kinase inhibitor is produced in vascular and ocular tissues [2]. Lower expression of the gene is associated with increased cell proliferation and inflammation, which can accelerate arterial plaque formation and elevate intraocular pressure [3]. Conversely, the protective version of this variant helps maintain optimal gene expression, offering resistance against cardiovascular and ocular diseases [4].
Key Insight: The same genetic variant that protects your blood vessels from plaque buildup also helps preserve the delicate structure of your optic nerve, shielding you from both heart attacks and glaucoma.
Location: CDKN2B. Chromosome 9 · 9p21.3 · 22.0 Mb
Estimated prevalence by population
Global 11.0%; European 18.6%; African 0.6%; East Asian 3.2%; South Asian 6.3%; Americas 4.9%; Ashkenazi 8.1%; Finnish 18.0%; Middle Eastern 3.1%; Amish 24.6%.
Estimated GG genotype frequency.
Global 36.6%; European 49.1%; African 14.0%; East Asian 29.4%; South Asian 37.6%; Americas 34.4%; Ashkenazi 40.7%; Finnish 48.8%; Middle Eastern 28.8%; Amish 50.0%.
Estimated GA genotype frequency.
Global 52.4%; European 32.3%; African 85.4%; East Asian 67.4%; South Asian 56.2%; Americas 60.8%; Ashkenazi 51.2%; Finnish 33.2%; Middle Eastern 68.1%; Amish 25.4%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Heart Disease
Heart Attack. Evidence: 3/10. Source: PMID 19272367. 30% Lower Risk.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 8/10. Source: PMID 30054458. Lower Risk.
Organ Systems
Vision & Eye Health
Glaucoma. Evidence: 6/10. Source: PMID 22419738. Lower Risk.
Pharmacogenomics
Immunosuppressant & Biologic Response
Apremilast Response. Evidence: 5/10. Source: PMID 38540428. Stronger Response.
Showing effects for A/A genotype
Heart Attack. Evidence: 3/10. Source: PMID 19272367. Typical Risk.
Type 2 Diabetes. Evidence: 8/10. Source: PMID 30054458. Typical Risk.
Glaucoma. Evidence: 6/10. Source: PMID 22419738. Typical Risk.
Apremilast Response. Evidence: 5/10. Source: PMID 38540428. Typical Response.
Showing effects for G/A genotype
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Two copies of the minor G allele provide substantial protection against several major health conditions. Studies show a 29 percent reduction in the risk of myocardial infarction, commonly known as a heart attack [1]. This protective effect is thought to stem from better regulation of cell growth in the blood vessels, preventing the arterial plaque buildup that leads to cardiovascular events [2]. Additionally, this genotype is strongly linked to a lower risk of developing primary open-angle glaucoma, a leading cause of blindness [3]. The genetic variant influences the vertical cup-to-disc ratio of the optic nerve, promoting a healthier optic disc structure that is more resilient to pressure [4]. Research also indicates a lower susceptibility to type 2 diabetes [5] and a more favorable response to the psoriasis medication apremilast [6].
Reduced risk of myocardial infarction; Lower susceptibility to open-angle glaucoma; Decreased risk of type 2 diabetes; Improved response to psoriasis treatment.
Sample genotype: AA (Homozygous)
Two copies of the common A allele represent the standard genetic baseline found in the majority of the population. This genotype is associated with a typical risk of myocardial infarction and does not provide the cardiovascular protection seen in carriers of the G allele [1]. Similarly, the risk of developing primary open-angle glaucoma remains at the standard population level [2]. This is because the A allele is associated with a larger vertical cup-to-disc ratio, which represents a standard optic nerve structure rather than the more resilient structure associated with the protective variant [3]. There is also a standard baseline risk for type 2 diabetes [4]. While this genotype does not increase disease risk beyond normal levels, individuals do not inherit the enhanced response to the psoriasis drug apremilast observed in G allele carriers [5].
Standard baseline risk of myocardial infarction; Typical susceptibility to open-angle glaucoma; Standard risk of type 2 diabetes; Typical response to psoriasis treatment.
Sample genotype: GA (Heterozygous)
Inheriting one copy of the protective G allele offers significant health advantages compared to the common baseline. Clinical data indicates a 29 percent reduction in the risk of experiencing a myocardial infarction [1]. This genetic buffer helps regulate cell proliferation in the vascular walls, reducing the likelihood of arterial narrowing and subsequent heart attacks [2]. The protective effect extends to the eyes, where carrying this allele is associated with a lower risk of primary open-angle glaucoma [3]. By influencing the structural parameters of the optic nerve, particularly the vertical cup-to-disc ratio, this variant helps protect retinal ganglion cells from degeneration [4]. Furthermore, individuals with this genotype show a lower risk of developing type 2 diabetes [5] and are more likely to experience an enhanced therapeutic response to apremilast when treated for psoriasis [6].
Variants with shared genetic architecture
rs10811661 · CDKN2B Gene · Chr 9 · Type 2 Diabetes Risk
rs3217992 · CDKN2B Gene · Chr 9 · Heart Disease Risk
rs2066827 · CDKN1B Gene · Chr 12 · Diabetes and Cancer Risk
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
MTAP and CDKN2B genes are associated with myocardial infarction in Chinese Hans.
A genome-wide association study of optic disc parameters.
PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis.
Content updated August 2026.
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