What you carry at this position in your DNA and what research says about it.
Cardiovascular and Diabetes Risk: 5/10 evidence, 14 publications.
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Sample genotype (not yours): T/T
Higher Risk of Diabetes and Heart Disease
Carrying two copies of the T allele is associated with an increased risk of developing type 2 diabetes and coronary artery disease. This genotype is also linked to altered susceptibility to certain brain tumors, though the exact direction of this effect is not established.
What this genotype means: Increased risk of type 2 diabetes; Elevated risk of coronary artery disease; Altered expression of ANRIL in tissues.
Sample genotype (not yours): C/C
Typical Risk of Diabetes and Heart Disease
Carrying two copies of the C allele is associated with a typical, baseline risk of type 2 diabetes and coronary artery disease. This genotype avoids the elevated risks linked to the T allele.
What this genotype means: Typical risk of type 2 diabetes; Typical risk of coronary artery disease.
Sample genotype (not yours): T/C
Slightly Higher Risk of Diabetes and Heart Disease
Carrying one copy of the T allele is associated with a slightly increased risk of developing type 2 diabetes and coronary artery disease. Susceptibility to certain brain tumors is also altered, though the exact direction is not established.
What this genotype means: Slightly increased risk of type 2 diabetes; Slightly elevated risk of coronary artery disease.
Gene function and biological role
Gene Function: The CDKN2B-AS1 gene encodes a long non-coding RNA known as ANRIL, which plays a critical role in epigenetic regulation [1]. ANRIL interacts with polycomb repressive complexes to modulate the expression of nearby tumor suppressor genes, including CDKN2A and CDKN2B [1]. These downstream genes are essential regulators of the cell cycle, controlling cellular aging, proliferation, and senescence [1]. Consequently, genetic variation in CDKN2B-AS1 is heavily implicated in susceptibility to cardiovascular diseases, metabolic disorders, and various forms of cancer [2].
Variant Impact: The rs564398 variant is an intronic change located within the CDKN2B-AS1 gene on chromosome 9p21.3. This genetic variation alters a binding site for transcription factors, directly impacting the expression levels of the ANRIL long non-coding RNA [1]. Specifically, the T allele is strongly associated with the underexpression of ANRIL in peripheral blood cells [1]. This change in expression alters the regulation of nearby cell-cycle inhibitors, which affects pancreatic beta-cell proliferation and vascular cell senescence [1] [3]. As a result, this single nucleotide polymorphism serves as a key genetic link between metabolic health and cardiovascular integrity [3].
Key Insight: This variant acts as a genetic bridge between metabolic and cardiovascular health by regulating cell aging and tissue regeneration.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.0 Mb
Estimated prevalence by population
Global 54.2%; European 34.3%; African 86.0%; East Asian 79.6%; South Asian 56.4%; Americas 62.1%; Ashkenazi 51.6%; Finnish 34.6%; Middle Eastern 70.6%; Amish 30.7%.
Estimated TT genotype frequency.
Global 35.7%; European 48.5%; African 13.5%; East Asian 19.2%; South Asian 37.4%; Americas 33.4%; Ashkenazi 40.5%; Finnish 48.4%; Middle Eastern 26.9%; Amish 49.4%.
Estimated TC genotype frequency.
Global 10.1%; European 17.2%; African 0.5%; East Asian 1.2%; South Asian 6.2%; Americas 4.5%; Ashkenazi 8.0%; Finnish 16.9%; Middle Eastern 2.6%; Amish 19.9%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 5/10. Source: PMID 17463249. Increased Risk.
Heart Disease
Coronary Artery Disease. Evidence: 3/10. Source: PMID 29615537. Increased Risk.
Cancer & Oncology
Brain & Nervous System Cancers
Glioma. Evidence: 4/10. Source: PMID 36810956. Not established.
Glioblastoma. Evidence: 4/10. Source: PMID 36810956. Not established.
Showing effects for C/C genotype
Type 2 Diabetes. Evidence: 5/10. Source: PMID 17463249. Typical Risk.
Coronary Artery Disease. Evidence: 3/10. Source: PMID 29615537. Typical Risk.
Showing effects for T/C genotype
Type 2 Diabetes. Evidence: 5/10. Source: PMID 17463249. Slightly Increased.
Coronary Artery Disease. Evidence: 3/10. Source: PMID 29615537. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Having the T/T genotype at this locus is associated with a higher risk of metabolic and cardiovascular conditions. Large-scale genetic studies have linked this genotype to a moderately increased risk of type 2 diabetes [1]. Research indicates that the T allele reduces the expression of the ANRIL long non-coding RNA, which in turn impairs the proliferation and regeneration of insulin-producing beta cells in the pancreas [2]. This cellular change can lead to reduced insulin secretory capacity over time [2]. Additionally, this genotype is associated with an elevated risk of coronary artery disease [3]. The reduction in ANRIL expression is thought to accelerate cellular senescence in the blood vessel walls, promoting plaque buildup and arterial calcification [4]. While an association with glioma and glioblastoma has also been identified at this locus, the specific risk direction for this variant remains unresolved [5].
Increased risk of type 2 diabetes; Elevated risk of coronary artery disease; Altered expression of ANRIL in tissues.
Sample genotype: CC (Homozygous)
Having the C/C genotype is associated with a typical, baseline risk of metabolic and cardiovascular issues. By carrying two copies of the protective C allele, you avoid the elevated risks of type 2 diabetes associated with the T allele [1]. In pancreatic tissues, the C allele is associated with typical expression of the ANRIL long non-coding RNA, supporting normal beta-cell proliferation and insulin homeostasis [2]. Similarly, this genotype is protective against the increased risk of coronary artery disease seen in T allele carriers [3]. Normal ANRIL expression helps maintain healthy blood vessel walls and reduces the likelihood of premature arterial calcification [4]. Although this 9p21.3 region is also linked to glioma and glioblastoma susceptibility, the specific risk direction for this variant is not established [5].
Typical risk of type 2 diabetes; Typical risk of coronary artery disease.
Sample genotype: TC (Heterozygous)
Having the T/C genotype means carrying one copy of the risk-associated T allele and one copy of the protective C allele. This intermediate status is linked to a slightly elevated risk of type 2 diabetes compared to those with the C/C genotype [1]. Functional studies show that the T allele decreases the expression of the ANRIL long non-coding RNA, which can limit the regenerative capacity of pancreatic beta cells [2]. This genotype is also associated with a mild increase in susceptibility to coronary artery disease [3]. Lower ANRIL expression is thought to influence vascular cell aging, contributing to gradual plaque accumulation in the arteries [4]. Furthermore, while this genomic region is associated with childhood and adult gliomas, the precise risk direction for this specific variant has not been established [5].
Slightly increased risk of type 2 diabetes; Slightly elevated risk of coronary artery disease.
Variants with shared genetic architecture
rs1333049 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs2891168 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs4977574 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
Common genetic variants in the 9p21 region and their associations with multiple tumours.
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.
Content updated August 2026.
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