What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 10/10 evidence, 26 publications.
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Sample genotype (not yours): A/A
Typical Diabetes Risk and Normal Drug Response
Standard baseline risk for type 2 diabetes characterizes this genetic profile. Standard, effective response to the blood-sugar-lowering medication repaglinide is also expected.
What this genotype means: Typical baseline risk for type 2 diabetes; Standard therapeutic response to repaglinide.
Sample genotype (not yours): A/C
Increased Diabetes Risk and Poorer Drug Response
Moderate elevation in the risk of developing type 2 diabetes is associated with this genetic profile. Standard treatment with certain blood-sugar-lowering medications like repaglinide may also be less effective.
What this genotype means: ~1.2x increased risk of type 2 diabetes; Reduced effectiveness of repaglinide treatment.
Sample genotype (not yours): C/C
Elevated Diabetes Risk and Poorer Drug Response
Elevated risk of type 2 diabetes is the primary hallmark of this genetic profile. Standard response to the diabetes medication repaglinide is also significantly reduced.
What this genotype means: ~1.2x to 1.3x increased risk of type 2 diabetes; Significantly reduced response to repaglinide.
Gene function and biological role
Gene Function: The IGF2BP2 gene encodes insulin-like growth factor 2 mRNA-binding protein 2, which plays a critical role in pancreatic development and insulin action. It regulates the translation of insulin-like growth factor 2, a key hormone involved in growth and glucose homeostasis. This protein is highly expressed in pancreatic islet beta-cells, where it helps maintain normal insulin secretion in response to glucose. Variations in this gene can disrupt pancreatic beta-cell function, leading to impaired insulin release and increased susceptibility to metabolic disorders.
Variant Impact: The rs1470579 variant is an intronic change located within the IGF2BP2 gene on chromosome 3. This genetic marker is widely recognized as a major susceptibility locus for type 2 diabetes across diverse global populations. The change from the common A allele to the risk C allele is associated with altered pancreatic islet function and reduced insulin secretion. It also influences how the body responds to certain oral diabetes medications, particularly insulin secretagogues.
Key Insight: The C allele of this variant not only increases the risk of developing type 2 diabetes but can also reduce the therapeutic effectiveness of repaglinide, a common blood-sugar-lowering medication.
Location: IGF2BP2. Chromosome 3 · 3q27.2 · 185.8 Mb
Estimated prevalence by population
Global 34.4%; European 46.2%; African 5.2%; East Asian 53.6%; South Asian 32.1%; Americas 46.3%; Ashkenazi 34.8%; Finnish 47.3%; Middle Eastern 47.4%; Amish 20.3%.
Estimated AA genotype frequency.
Global 41.4%; European 43.5%; African 35.3%; East Asian 39.2%; South Asian 49.1%; Americas 43.5%; Ashkenazi 48.4%; Finnish 43.0%; Middle Eastern 42.9%; Amish 49.5%.
Estimated AC genotype frequency.
Global 24.2%; European 10.2%; African 59.4%; East Asian 7.2%; South Asian 18.8%; Americas 10.2%; Ashkenazi 16.8%; Finnish 9.8%; Middle Eastern 9.7%; Amish 30.2%.
Estimated CC genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 20581827. Typical Risk.
Endocrine & Reproductive
Pregnancy & Birth Complications
Gestational Diabetes. Evidence: 4/10. Source: PMID 22233651. Typical Risk.
Hormone Levels & Endocrine Regulation
Hypothyroidism. Evidence: 8/10. Source: PMID 39024449. Slightly Increased.
Pharmacogenomics
Diabetes Medication Response
Repaglinide Response. Evidence: 5/10. Source: PMID 20523342. Typical Response.
Showing effects for A/C genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 20581827. ~1.2x Increased Risk.
Gestational Diabetes. Evidence: 4/10. Source: PMID 22233651. Increased Risk.
Hypothyroidism. Evidence: 8/10. Source: PMID 39024449. Typical.
Repaglinide Response. Evidence: 5/10. Source: PMID 20523342. Poorer Response.
Showing effects for C/C genotype
Gestational Diabetes. Evidence: 4/10. Source: PMID 22233651. ~1.3x Increased Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
This genotype represents the baseline genetic profile for the IGF2BP2 locus. Large-scale genome-wide association studies have consistently shown that individuals with two copies of the A allele do not carry the elevated risk for type 2 diabetes associated with this variant. Clinical research indicates that pancreatic beta-cells function normally in these individuals, maintaining healthy insulin secretion. Furthermore, when treated with the oral diabetes medication repaglinide, individuals with this genotype show a standard, favorable response with significant reductions in blood glucose levels. However, there is a slight genetic trade-off, as some large-scale cohort data suggests a minor increase in susceptibility to hypothyroidism associated with the A allele. Overall, this genotype is considered highly favorable for metabolic health.
Typical baseline risk for type 2 diabetes; Standard therapeutic response to repaglinide.
Sample genotype: AC (Heterozygous)
This genotype is associated with a moderately elevated susceptibility to metabolic challenges. Multiple genome-wide association studies have demonstrated that carrying a single C allele increases the risk of developing type 2 diabetes by approximately 1.2-fold. This increased risk is thought to stem from subtle alterations in pancreatic beta-cell function, which can impair the first-phase insulin secretion required to manage blood sugar spikes. Additionally, pregnant individuals carrying this allele may face a higher risk of gestational diabetes. Pharmacogenomic studies have also noted that carriers of the C allele tend to show a reduced therapeutic response to repaglinide, experiencing less postprandial glucose clearance compared to those with the AA genotype. Maintaining a healthy diet and active lifestyle can help mitigate these genetic predispositions.
~1.2x increased risk of type 2 diabetes; Reduced effectiveness of repaglinide treatment.
Sample genotype: CC (Homozygous)
This genotype represents the highest genetic risk profile at this specific locus for metabolic complications. Individuals with two copies of the C allele have an approximately 1.2-fold to 1.3-fold increased risk of developing type 2 diabetes. The presence of the C allele is linked to decreased insulin secretion from pancreatic beta-cells, making it harder for the body to regulate glucose levels efficiently. This genetic variant is also associated with a higher risk of gestational diabetes during pregnancy. Furthermore, clinical trials have shown that patients with this genotype have a significantly poorer response to repaglinide, showing less reduction in fasting and postprandial blood sugar levels during treatment. Proactive lifestyle strategies, such as regular physical activity and a balanced diet, are particularly beneficial for managing these genetic risks.
~1.2x to 1.3x increased risk of type 2 diabetes; Significantly reduced response to repaglinide.
Variants with shared genetic architecture
rs4402960 · IGF2BP2 Gene · Chr 3 · Type 2 Diabetes Risk
rs11558471 · SLC30A8 Gene · Chr 8 · Type 2 Diabetes Risk
rs11708067 · ADCY5 Gene · Chr 3 · Type 2 Diabetes Risk
Content updated August 2026.
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