What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 10/10 evidence, 18 publications.
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Sample genotype (not yours): C/C
Higher Risk of Type 2 Diabetes
Carrying two copies of the C allele is associated with an increased susceptibility to type 2 diabetes and slightly higher average blood sugar levels. It may also correlate with a modest increase in systolic blood pressure.
What this genotype means: Increased risk of type 2 diabetes; Slightly higher HbA1c levels; Modestly higher systolic blood pressure.
Sample genotype (not yours): A/A
Typical Risk of Type 2 Diabetes
Carrying two copies of the A allele is associated with a lower risk of type 2 diabetes and typical long-term blood sugar levels. This genotype represents the protective baseline for metabolic health at this locus.
What this genotype means: Typical or lower risk of type 2 diabetes; Typical HbA1c levels; Typical systolic blood pressure.
Sample genotype (not yours): C/A
Moderately Increased Risk of Type 2 Diabetes
Carrying one copy of the C allele is associated with a moderately increased risk of type 2 diabetes and slightly elevated average blood sugar levels. This intermediate genotype represents a middle ground between the protective and risk-prone variants.
What this genotype means: Moderately increased risk of type 2 diabetes; Slightly elevated HbA1c levels.
Gene function and biological role
Gene Function: The ABCC8 gene encodes the sulfonylurea receptor 1 subunit, which forms part of the ATP-sensitive potassium channel in pancreatic beta cells [1]. This channel plays a central role in regulating insulin secretion in response to blood glucose levels [1]. Genetic variations in this gene can alter channel activity, affecting how efficiently the pancreas releases insulin [2]. Certain mutations in ABCC8 are known to cause rare disorders of glucose regulation, such as congenital hyperinsulinism or neonatal diabetes [2].
Variant Impact: The rs757110 variant represents a missense change in the ABCC8 gene, substituting the amino acid alanine with serine at position 1369 of the SUR1 protein [1]. This specific structural alteration, known as Ala1369Ser, is located near the drug-binding region of the receptor [1]. While it does not cause severe neonatal diabetes or hyperinsulinism, it subtly influences the channel's sensitivity to intracellular ATP and therapeutic agents [2]. Consequently, this variant is widely studied for its impact on common metabolic traits and response to oral diabetes medications [2].
Key Insight: This variant is in strong genetic linkage with another well-known diabetes risk variant in the KCNJ11 gene, meaning they are almost always inherited together as a single functional block.
Location: ABCC8. Chromosome 11 · 11p15.1 · 17.4 Mb
Estimated prevalence by population
Global 10.2%; European 13.2%; African 0.4%; East Asian 13.7%; South Asian 15.3%; Americas 10.9%; Ashkenazi 14.2%; Finnish 22.1%; Middle Eastern 9.8%; Amish 27.0%.
Estimated CC genotype frequency.
Global 37.0%; European 46.2%; African 12.4%; East Asian 46.6%; South Asian 47.6%; Americas 44.2%; Ashkenazi 46.9%; Finnish 49.8%; Middle Eastern 43.0%; Amish 49.9%.
Estimated CA genotype frequency.
Global 52.7%; European 40.6%; African 87.2%; East Asian 39.8%; South Asian 37.1%; Americas 44.8%; Ashkenazi 38.9%; Finnish 28.1%; Middle Eastern 47.2%; Amish 23.1%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 22885922. Increased Risk.
HbA1c. Evidence: 8/10. Source: PMID 34594039. Slightly Higher.
Hypertension
Systolic Blood Pressure. Evidence: 7/10. Source: PMID 39548300. Slightly Higher.
Blood Cell & Iron Traits
Hematocrit. Evidence: 8/10. Source: PMID 39024449. Typical.
Pharmacogenomics
Diabetes Medication Response
Sulfonylurea Response. Evidence: 5/10. Source: PMID 29681852. Stronger Response.
Showing effects for A/A genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 22885922. Typical Risk.
HbA1c. Evidence: 8/10. Source: PMID 34594039. Typical.
Systolic Blood Pressure. Evidence: 7/10. Source: PMID 39548300. Typical.
Hematocrit. Evidence: 8/10. Source: PMID 39024449. Slightly Higher.
Showing effects for C/A genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 22885922. Moderately Increased.
Sulfonylurea Response. Evidence: 5/10. Source: PMID 29681852. Typical Response.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Having two copies of the C allele is linked to a higher risk of developing type 2 diabetes [1]. Large-scale genome-wide association studies show that each C allele increases the odds of diabetes by approximately 6% [2]. This genetic predisposition is also reflected in higher average HbA1c levels, a key marker of long-term blood sugar control [3]. Additionally, some cohorts show a modest association between this genotype and elevated systolic blood pressure [4]. On the therapeutic side, some clinical studies suggest that this genotype may respond more favorably to sulfonylurea medications, which target the SUR1 receptor to stimulate insulin release [5].
Increased risk of type 2 diabetes; Slightly higher HbA1c levels; Modestly higher systolic blood pressure.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele is associated with a lower risk of developing type 2 diabetes [1]. Large-scale genetic analyses confirm that this genotype is protective against elevated blood sugar levels, resulting in lower average HbA1c [2]. Systolic blood pressure also tends to be lower or typical compared to carriers of the C allele [3]. ClinVar assessments confirm that this common variant is entirely benign and does not cause rare, severe neonatal pancreatic disorders [4]. Some pharmacogenetic research indicates that this genotype may also show a favorable response to sulfonylurea therapies if treatment is ever required [5].
Typical or lower risk of type 2 diabetes; Typical HbA1c levels; Typical systolic blood pressure.
Sample genotype: CA (Heterozygous)
Carrying one copy of the C allele and one copy of the A allele places individuals at an intermediate risk for type 2 diabetes [1]. This heterozygous state is associated with a slight increase in susceptibility compared to those with the protective A/A genotype [2]. Blood sugar markers, such as HbA1c, also tend to fall between the levels seen in the other two genotypes [3]. In terms of blood pressure, a modest upward trend in systolic readings has been observed in some populations [4]. While the risk is elevated, lifestyle factors such as diet and exercise remain highly influential in determining overall metabolic health.
Moderately increased risk of type 2 diabetes; Slightly elevated HbA1c levels.
Variants with shared genetic architecture
rs11558471 · SLC30A8 Gene · Chr 8 · Type 2 Diabetes Risk
rs11708067 · ADCY5 Gene · Chr 3 · Type 2 Diabetes Risk
rs1470579 · IGF2BP2 Gene · Chr 3 · Type 2 Diabetes Risk
ABCC8 polymorphism (Ser1369Ala): influence on severe hypoglycemia due to sulfonylureas.
The Genetics of Adverse Drug Outcomes in Type 2 Diabetes: A Systematic Review.
A cross-population atlas of genetic associations for 220 human phenotypes.
Content updated August 2026.
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