What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 10/10 evidence, 44 publications.
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Sample genotype (not yours): A/A
Lower Risk of Type 2 Diabetes
This genotype is associated with typical insulin secretion and a lower risk of developing type 2 diabetes. However, it may carry a higher risk of heart-related side effects if taking the medication ibrutinib.
What this genotype means: Typical insulin secretion; Lower risk of type 2 diabetes; Increased risk of ibrutinib cardiovascular toxicity.
Sample genotype (not yours): A/C
Increased Risk of Type 2 Diabetes
Carrying one copy of the C allele is linked to reduced insulin secretion and a higher risk of type 2 diabetes. On the positive side, it may improve the body's response to certain diabetes medications like repaglinide.
What this genotype means: Reduced insulin secretion; Elevated risk of type 2 diabetes; Better response to repaglinide and gliclazide.
Sample genotype (not yours): C/C
Higher Risk of Type 2 Diabetes
Carrying two copies of the C allele is associated with the lowest insulin secretion and the highest risk of type 2 diabetes. However, it is also linked to a better therapeutic response to oral diabetes medications.
What this genotype means: Lowest insulin secretion; Highest risk of type 2 diabetes; Enhanced response to repaglinide and gliclazide.
Gene function and biological role
Gene Function: The KCNQ1 gene provides instructions for making proteins that form potassium channels, which are crucial for transporting positively charged potassium atoms into and out of cells. These channels play a vital role in maintaining normal electrical activity in the heart and inner ear [1]. Additionally, KCNQ1 is highly expressed in the insulin-secreting beta cells of the pancreas, where it helps regulate the release of insulin in response to glucose [2]. Variations in this gene can alter channel activity, directly impacting how efficiently the pancreas secretes insulin to manage blood sugar levels [2].
Variant Impact: The rs2237895 variant is an intron change located within the KCNQ1 gene, meaning it does not directly alter the amino acid sequence of the potassium channel protein. Instead, this genetic variation is thought to influence gene expression levels or splicing patterns in pancreatic islet cells [1]. The minor C allele of this variant is strongly associated with reduced insulin secretion following glucose intake, which impairs the body's ability to clear sugar from the bloodstream [2]. This molecular mechanism makes the variant one of the most well-replicated genetic risk factors for type 2 diabetes, particularly in East Asian and European populations [1].
Key Insight: The same genetic variant that increases the risk of developing type 2 diabetes also makes individuals more responsive to common oral diabetes medications like repaglinide and gliclazide.
Location: KCNQ1. Chromosome 11 · 11p15.4 · 2.8 Mb
Estimated prevalence by population
Global 43.2%; European 34.2%; African 66.7%; East Asian 44.2%; South Asian 36.8%; Americas 38.4%; Ashkenazi 30.4%; Finnish 25.5%; Middle Eastern 38.3%; Amish 24.9%.
Estimated AA genotype frequency.
Global 43.3%; European 48.6%; African 30.0%; East Asian 44.6%; South Asian 47.7%; Americas 47.2%; Ashkenazi 49.5%; Finnish 50.0%; Middle Eastern 47.2%; Amish 50.0%.
Estimated AC genotype frequency.
Global 13.5%; European 17.3%; African 3.4%; East Asian 11.2%; South Asian 15.5%; Americas 14.5%; Ashkenazi 20.1%; Finnish 24.6%; Middle Eastern 14.5%; Amish 25.1%.
Estimated CC genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 18711366. Typical Risk.
Insulin Secretion. Evidence: 4/10. Source: PMID 19516902. Typical Secretion.
HbA1c. Evidence: 8/10. Source: PMID 34594039. Typical Levels.
Pharmacogenomics
Diabetes Medication Response
Repaglinide Response. Evidence: 5/10. Source: PMID 22414228. Typical Response.
Gliclazide Response. Evidence: 5/10. Source: PMID 27694910. Typical Response.
Chemotherapy Response
Ibrutinib Toxicity. Evidence: 5/10. Source: PMID 39832190. Increased Risk.
Showing effects for A/C genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 18711366. Increased Risk.
Insulin Secretion. Evidence: 4/10. Source: PMID 19516902. Reduced Secretion.
HbA1c. Evidence: 8/10. Source: PMID 34594039. Slightly Higher.
Repaglinide Response. Evidence: 5/10. Source: PMID 22414228. Stronger Response.
Gliclazide Response. Evidence: 5/10. Source: PMID 27694910. Stronger Response.
Ibrutinib Toxicity. Evidence: 5/10. Source: PMID 39832190. Typical Risk.
Showing effects for C/C genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 18711366. Highest Risk.
Insulin Secretion. Evidence: 4/10. Source: PMID 19516902. Lowest Secretion.
HbA1c. Evidence: 8/10. Source: PMID 34594039. Higher Levels.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Nondiabetic individuals with this genotype show typical insulin release following glucose consumption, helping maintain stable blood sugar levels [1]. Because this genotype lacks the risk-increasing C allele, it is consistently associated with a lower risk of developing type 2 diabetes across multiple populations [2]. HbA1c levels, which measure long-term blood sugar control, also tend to remain in the typical range [3]. However, in the context of cancer treatment, research suggests that individuals with this genotype may have an increased likelihood of experiencing cardiovascular toxicity, such as heart rhythm disorders, when treated with the drug ibrutinib [4]. Aside from this specific medication context, the genotype represents a favorable metabolic profile with typical pancreatic beta-cell function.
Typical insulin secretion; Lower risk of type 2 diabetes; Increased risk of ibrutinib cardiovascular toxicity.
Sample genotype: AC (Heterozygous)
Carrying one copy of the C allele is associated with a moderate reduction in insulin secretion from the pancreas after meals [1]. This impairment in beta-cell function leads to a higher risk of developing type 2 diabetes and slightly elevated HbA1c levels over time [2]. The association is particularly pronounced in East Asian and European populations, where the variant has been extensively studied [3]. Interestingly, this genetic change also influences how the body processes certain medications. Clinical studies indicate that patients with this genotype may experience a significantly better therapeutic response to oral blood sugar-lowering drugs, such as repaglinide and gliclazide, compared to those with the typical genotype [4].
Reduced insulin secretion; Elevated risk of type 2 diabetes; Better response to repaglinide and gliclazide.
Sample genotype: CC (Homozygous)
Having two copies of the C allele is linked to the lowest levels of glucose-stimulated insulin release due to altered potassium channel function in the pancreas [1]. This significant reduction in insulin secretion results in the highest genetic risk of developing type 2 diabetes and elevated HbA1c levels [2]. The strong association with impaired fasting glucose and diabetes susceptibility has been validated in numerous global meta-analyses [3]. Despite the elevated risk, this genotype offers a distinct advantage in treatment scenarios. If diabetes does develop, individuals with this genotype show a superior clinical response to oral antidiabetic therapies, particularly repaglinide and sulfonylureas like gliclazide, allowing for more effective blood sugar management [4].
Lowest insulin secretion; Highest risk of type 2 diabetes; Enhanced response to repaglinide and gliclazide.
Variants with shared genetic architecture
rs2074238 · KCNQ1 Gene · Chr 11 · Cardiac QT Interval
rs2237897 · KCNQ1 Gene · Chr 11 · Type 2 Diabetes Risk
rs2237892 · KCNQ1 Gene · Chr 11 · Type 2 Diabetes Risk
A cross-population atlas of genetic associations for 220 human phenotypes.
Pharmacogenetic associations of GATA4 and KCNQ1 with ibrutinib cardiovascular toxicity.
Content updated August 2026.
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