What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 8/10 evidence, 24 publications.
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Sample genotype (not yours): T/T
Higher Risk of Type 2 Diabetes and Elevated Glucose
This genotype is associated with a higher risk of developing type 2 diabetes and elevated blood sugar levels. It also correlates with a slightly taller stature but a lower average body mass index.
What this genotype means: Higher risk of type 2 diabetes; Elevated blood glucose and HbA1c; Increased risk of diabetic retinopathy.
Sample genotype (not yours): C/C
Lower Risk of Type 2 Diabetes and Typical Glucose
This genotype is associated with a lower risk of type 2 diabetes and healthier blood sugar levels. However, it is also linked to a slightly higher body mass index and shorter average height.
What this genotype means: Lower risk of type 2 diabetes; Healthy blood glucose levels; Slightly higher average BMI.
Sample genotype (not yours): T/C
Moderately Higher Risk of Type 2 Diabetes
This genotype is linked to a moderate increase in type 2 diabetes risk and slightly higher blood glucose levels. It represents an intermediate state for both metabolic risk and physical height.
What this genotype means: Moderately higher risk of type 2 diabetes; Slightly elevated blood glucose; Slightly taller average height.
Gene function and biological role
Gene Function: The JAZF1 gene encodes a transcriptional repressor that plays a critical role in metabolic homeostasis and growth [1]. It interacts with the nuclear receptor NR2C2 to regulate metabolic pathways, particularly in pancreatic beta-cells and adipose tissue [2]. Proper expression of this gene is essential for insulin secretion and maintaining normal glucose levels under metabolic stress [2]. Alterations in its regulatory regions are heavily linked to type 2 diabetes susceptibility and height variations [1] [3].
Variant Impact: Located in the first intron of the JAZF1 gene, rs1635852 is a single nucleotide variant that acts as a cis-regulatory element [2]. The T allele alters transcriptional activity by increasing the binding of a repressor complex, which includes the pancreatic master regulator PDX1 [2]. This increased binding leads to reduced expression of JAZF1 in pancreatic islets [2]. Consequently, insulin secretion is impaired, elevating the risk of developing type 2 diabetes [3].
Key Insight: The same genetic variant that increases the risk of type 2 diabetes also promotes bone growth, making carriers slightly taller on average.
Location: JAZF1. Chromosome 7 · 7p15.1 · 28.1 Mb
Estimated prevalence by population
Global 35.3%; European 24.6%; African 52.3%; East Asian 59.9%; South Asian 52.5%; Americas 33.2%; Ashkenazi 19.6%; Finnish 26.2%; Middle Eastern 33.4%; Amish 27.0%.
Estimated TT genotype frequency.
Global 46.3%; European 50.0%; African 40.0%; East Asian 35.0%; South Asian 39.9%; Americas 48.8%; Ashkenazi 49.3%; Finnish 50.0%; Middle Eastern 48.8%; Amish 49.9%.
Estimated TC genotype frequency.
Global 18.5%; European 25.4%; African 7.7%; East Asian 5.1%; South Asian 7.6%; Americas 17.9%; Ashkenazi 31.1%; Finnish 23.8%; Middle Eastern 17.8%; Amish 23.1%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 8/10. Source: PMID 31118516. Increased Risk.
Blood Glucose. Evidence: 8/10. Source: PMID 34059833. Elevated Levels.
Gout & Uric Acid
Gout. Evidence: 6/10. Source: PMID 39406924. ~1.06x Risk.
Obesity & Body Composition
Body Mass Index. Evidence: 8/10. Source: PMID 36581621. Typical BMI.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 5/10. Source: PMID 18952825. ~0.5 cm Taller.
Organ Systems
Vision & Eye Health
Diabetic Retinopathy. Evidence: 8/10. Source: PMID 39024449. Increased Risk.
Showing effects for C/C genotype
Type 2 Diabetes. Evidence: 8/10. Source: PMID 31118516. Typical Risk.
Blood Glucose. Evidence: 8/10. Source: PMID 34059833. Typical Levels.
Gout. Evidence: 6/10. Source: PMID 39406924. Typical Risk.
Body Mass Index. Evidence: 8/10. Source: PMID 36581621. Slightly Higher BMI.
Height. Evidence: 5/10. Source: PMID 18952825. Typical Height.
Diabetic Retinopathy. Evidence: 8/10. Source: PMID 39024449. Typical Risk.
Showing effects for T/C genotype
Blood Glucose. Evidence: 8/10. Source: PMID 34059833. Slightly Elevated.
Gout. Evidence: 6/10. Source: PMID 39406924. ~1.03x Risk.
Height. Evidence: 5/10. Source: PMID 18952825. ~0.25 cm Taller.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele significantly impacts pancreatic islet function by reducing the expression of the JAZF1 gene [1]. This reduction is driven by the T allele's high affinity for a transcriptional repressor complex that binds the master regulator PDX1 [1]. As a result, insulin secretion is compromised, leading to higher fasting glucose levels and elevated HbA1c [2]. Large-scale genetic studies have consistently linked this genotype to an increased risk of type 2 diabetes and diabetic eye complications like retinopathy [2]. Additionally, this variant is associated with a higher susceptibility to gout [3]. Interestingly, the same biological pathway that increases diabetes risk also promotes bone growth, making T/T carriers slightly taller on average [4].
Higher risk of type 2 diabetes; Elevated blood glucose and HbA1c; Increased risk of diabetic retinopathy; Slightly taller average height.
Sample genotype: CC (Homozygous)
Carrying two copies of the C allele is highly protective against the metabolic dysregulation associated with this locus [1]. The C allele maintains normal enhancer activity and JAZF1 expression in pancreatic islets, supporting healthy insulin secretion [1]. Because of this optimal pancreatic function, individuals with this genotype have lower average blood glucose and HbA1c levels [2]. The risk of developing type 2 diabetes and diabetic eye complications is significantly reduced compared to T allele carriers [2]. This genotype also correlates with a lower risk of gout [3]. However, the C allele is associated with a slightly higher average body mass index [4]. Additionally, the lack of the T allele is linked to a slightly shorter average height [5].
Lower risk of type 2 diabetes; Healthy blood glucose levels; Slightly higher average BMI; Slightly shorter average height.
Sample genotype: TC (Heterozygous)
Having one copy of the T allele and one copy of the C allele creates a balanced metabolic profile with intermediate risks [1]. The T allele contributes to reduced JAZF1 expression in pancreatic islets, which mildly impairs insulin secretion [1]. Consequently, carriers face a moderately elevated risk of type 2 diabetes and slightly higher blood sugar levels compared to those with the C/C genotype [2]. This genotype is also associated with a modest increase in gout susceptibility [3]. On the physical side, the presence of one T allele is linked to a slight increase in average height [4]. Conversely, the C allele introduces a minor increase in average body mass index [5].
Moderately higher risk of type 2 diabetes; Slightly elevated blood glucose; Slightly taller average height.
Variants with shared genetic architecture
rs10486567 · JAZF1 Gene · Chr 7 · Prostate Cancer Risk
rs864745 · JAZF1 Gene · Chr 7 · Type 2 Diabetes Risk
rs849134 · JAZF1 Gene · Chr 7 · Type 2 Diabetes Risk
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
A genome-wide association analysis reveals new pathogenic pathways in gout.
Genomics and phenomics of body mass index reveals a complex disease network.
Content updated August 2026.
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