What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 10/10 evidence, 56 publications.
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Sample genotype (not yours): T/T
Higher Risk of Type 2 Diabetes
Carrying two copies of the T allele is associated with an increased risk of developing type 2 diabetes. It is also linked to a higher susceptibility to Crohn's disease and asthma.
What this genotype means: Highest risk of type 2 diabetes; Increased susceptibility to Crohn's disease; Increased susceptibility to asthma.
Sample genotype (not yours): C/C
Typical Risk of Type 2 Diabetes
Carrying two copies of the C allele is associated with a typical, lower risk of type 2 diabetes. It also provides relative protection against Crohn's disease and asthma.
What this genotype means: Typical, lower risk of type 2 diabetes; Typical, lower risk of Crohn's disease; Typical, lower risk of asthma.
Sample genotype (not yours): T/C
Moderately Higher Risk of Type 2 Diabetes
Carrying one copy of the T allele is associated with a moderately increased risk of type 2 diabetes. It also slightly elevates the risk of Crohn's disease and asthma.
What this genotype means: Moderately increased risk of type 2 diabetes; Slightly increased susceptibility to Crohn's disease; Slightly increased susceptibility to asthma.
Gene function and biological role
Gene Function: The JAZF1 gene encodes the JAZF zinc finger 1 protein, which acts as a transcriptional repressor and plays a critical role in metabolic regulation [1]. It is highly expressed in pancreatic beta-cells, where it helps regulate insulin synthesis, secretion, and cell survival [2]. JAZF1 also influences lipid metabolism, adipocyte differentiation, and systemic insulin sensitivity [3]. Genetic variations in this gene are strongly linked to metabolic disorders, particularly type 2 diabetes, as well as inflammatory conditions [4]. Dysregulation of JAZF1 can impair pancreatic function and alter glucose homeostasis [2].
Variant Impact: The rs864745 variant is an intronic single nucleotide polymorphism located within the JAZF1 gene [1]. Although it does not directly alter the amino acid sequence of the JAZF1 protein, it is thought to influence gene expression levels [5]. The risk-associated T allele has been linked to reduced JAZF1 expression in pancreatic islets, which compromises beta-cell function and insulin secretion [3]. This molecular change leads to an increased susceptibility to type 2 diabetes and other inflammatory conditions [4].
Key Insight: The risk allele for diabetes at this locus also increases the risk of Crohn's disease, highlighting a shared genetic link between metabolic dysfunction and chronic inflammation.
Location: JAZF1. Chromosome 7 · 7p15.1 · 28.1 Mb
Estimated prevalence by population
Global 36.2%; European 24.7%; African 55.6%; East Asian 59.9%; South Asian 53.3%; Americas 33.2%; Ashkenazi 20.9%; Finnish 25.3%; Middle Eastern 33.8%; Amish 26.8%.
Estimated TT genotype frequency.
Global 45.7%; European 50.0%; African 37.9%; East Asian 35.0%; South Asian 39.4%; Americas 48.8%; Ashkenazi 49.6%; Finnish 50.0%; Middle Eastern 48.7%; Amish 49.9%.
Estimated TC genotype frequency.
Global 18.1%; European 25.3%; African 6.5%; East Asian 5.1%; South Asian 7.3%; Americas 18.0%; Ashkenazi 29.5%; Finnish 24.7%; Middle Eastern 17.5%; Amish 23.3%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 18372903. Higher Risk.
Lipids & Cholesterol
VLDL Triglycerides. Evidence: 6/10. Source: PMID 41044249. Typical Levels.
Immunity & Inflammation
Chronic Inflammatory Diseases
Crohn's Disease. Evidence: 5/10. Source: PMID 23128233. Higher Risk.
Organ Systems
Respiratory Health
Asthma. Evidence: 6/10. Source: PMID 36777996. Higher Risk.
Showing effects for C/C genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 18372903. Typical Risk.
VLDL Triglycerides. Evidence: 6/10. Source: PMID 41044249. Higher Levels.
Crohn's Disease. Evidence: 5/10. Source: PMID 23128233. Typical Risk.
Asthma. Evidence: 6/10. Source: PMID 36777996. Typical Risk.
Showing effects for T/C genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 18372903. Moderately Higher Risk.
VLDL Triglycerides. Evidence: 6/10. Source: PMID 41044249. Slightly Higher.
Crohn's Disease. Evidence: 5/10. Source: PMID 23128233. Moderately Higher Risk.
Asthma. Evidence: 6/10. Source: PMID 36777996. Moderately Higher Risk.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
This genotype is associated with the highest risk of type 2 diabetes within this locus, as confirmed by multiple large-scale genome-wide association studies [1]. The risk is primarily driven by impaired pancreatic beta-cell function, leading to reduced insulin secretion in response to glucose [2]. Individuals with this genotype may also have a slightly increased risk of Crohn's disease [3] and asthma [4]. Research suggests that the T allele correlates with lower expression of the JAZF1 gene, which is crucial for maintaining glucose homeostasis and controlling inflammation [2]. While these genetic factors elevate baseline risk, lifestyle choices such as diet and exercise remain powerful tools for managing metabolic health [5].
Highest risk of type 2 diabetes; Increased susceptibility to Crohn's disease; Increased susceptibility to asthma.
Sample genotype: CC (Homozygous)
This genotype is associated with the lowest risk of type 2 diabetes at this locus, serving as a protective baseline against metabolic dysfunction [1]. Pancreatic beta-cells in individuals with this genotype typically demonstrate optimal insulin secretion and glucose sensitivity [2]. Furthermore, carrying two copies of the C allele is associated with a lower risk of inflammatory conditions such as Crohn's disease [3] and asthma [4]. Although this genotype is highly favorable for glucose metabolism, it has been linked to slightly higher levels of triglycerides in very large VLDL particles [5]. Overall, this genetic profile supports robust metabolic health, which can be further enhanced by standard healthy lifestyle practices [6].
Typical, lower risk of type 2 diabetes; Typical, lower risk of Crohn's disease; Typical, lower risk of asthma.
Sample genotype: TC (Heterozygous)
This heterozygous genotype represents an intermediate risk profile for metabolic and inflammatory conditions. Large-scale genetic analyses show a moderate increase in the risk of developing type 2 diabetes compared to the protective C/C genotype [1]. This risk is linked to subtle decreases in pancreatic beta-cell function and insulin release during glucose stimulation [2]. Additionally, carriers of one T allele have a slightly elevated susceptibility to Crohn's disease [3] and asthma [4]. The presence of one protective C allele helps mitigate some of the metabolic impact compared to homozygous T/T carriers [2]. Maintaining a balanced diet and regular physical activity can significantly offset this genetic predisposition [5].
Moderately increased risk of type 2 diabetes; Slightly increased susceptibility to Crohn's disease; Slightly increased susceptibility to asthma.
Variants with shared genetic architecture
rs10486567 · JAZF1 Gene · Chr 7 · Prostate Cancer Risk
rs1635852 · JAZF1 Gene · Chr 7 · Type 2 Diabetes Risk
rs849134 · JAZF1 Gene · Chr 7 · Type 2 Diabetes Risk
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
A genetic map of human metabolism across the allele frequency spectrum.
Content updated August 2026.
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