What you carry at this position in your DNA and what research says about it.
Cardiovascular Risk: 10/10 evidence, 49 publications.
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Sample genotype (not yours): A/A
Typical Heart and Metabolic Risk Profile
This genotype is associated with typical cholesterol levels and a standard baseline risk for heart disease and type 2 diabetes.
What this genotype means: Typical LDL cholesterol levels; Standard baseline cardiovascular risk; Slightly higher urate levels.
Sample genotype (not yours): A/C
Slightly Elevated Cholesterol and Heart Risk
Carrying one copy of the variant allele is associated with slightly higher LDL cholesterol and a modest increase in cardiovascular and diabetes risk.
What this genotype means: Slightly elevated LDL cholesterol; Modestly increased cardiovascular risk; Slightly lower systemic inflammation.
Sample genotype (not yours): C/C
Elevated Cholesterol and Cardiovascular Risk
Carrying two copies of the variant allele is linked to higher LDL cholesterol, increased heart disease risk, and a higher likelihood of type 2 diabetes.
What this genotype means: Elevated LDL cholesterol levels; Increased risk of coronary artery disease; Lower systemic inflammation.
Gene function and biological role
Gene Function: The HNF1A gene encodes hepatocyte nuclear factor 1-alpha, a transcription factor that plays a critical role in the liver and pancreas. It regulates the expression of genes involved in glucose transport, insulin secretion, lipid metabolism, and the production of inflammatory proteins like C-reactive protein [1]. Mutations in this gene can cause maturity-onset diabetes of the young, a rare form of inherited diabetes [2]. Common variations in HNF1A, however, influence broader metabolic traits in the general population, including blood cholesterol levels and cardiovascular risk [1].
Variant Impact: The rs1169288 variant is a missense mutation in the HNF1A gene that changes the amino acid at position 27 from isoleucine to leucine. This structural alteration affects how the HNF1A protein regulates downstream target genes in the liver and pancreas [1]. The leucine-encoding C allele is associated with higher low-density lipoprotein cholesterol and an increased risk of coronary artery disease [3]. Interestingly, this same variant leads to lower circulating levels of C-reactive protein, demonstrating a complex, multi-system metabolic impact [4].
Key Insight: The variant that lowers C-reactive protein (an inflammatory marker) actually increases heart disease risk due to its stronger negative effects on cholesterol and blood sugar.
Location: HNF1A. Chromosome 12 · 12q24.31 · 121.0 Mb
Estimated prevalence by population
Global 51.7%; European 45.2%; African 76.6%; East Asian 34.7%; South Asian 34.1%; Americas 43.0%; Ashkenazi 29.4%; Finnish 35.5%; Middle Eastern 23.7%; Amish 36.0%.
Estimated AA genotype frequency.
Global 38.8%; European 44.1%; African 21.8%; East Asian 48.4%; South Asian 48.6%; Americas 45.1%; Ashkenazi 49.6%; Finnish 48.1%; Middle Eastern 50.0%; Amish 48.0%.
Estimated AC genotype frequency.
Global 9.5%; European 10.8%; African 1.6%; East Asian 16.9%; South Asian 17.3%; Americas 11.8%; Ashkenazi 21.0%; Finnish 16.3%; Middle Eastern 26.4%; Amish 16.0%.
Estimated CC genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Typical LDL.
Heart Disease
Heart Disease. Evidence: 9/10. Source: PMID 29212778. Typical Risk.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 9/10. Source: PMID 29632382. Typical Risk.
Gout & Uric Acid
Gout. Evidence: 8/10. Source: PMID 31578528. Slightly Higher Urate.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
Inflammation. Evidence: 4/10. Source: PMID 21195701. Typical CRP.
Showing effects for A/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Slightly Higher LDL.
Heart Disease. Evidence: 9/10. Source: PMID 29212778. Slightly Higher Risk.
Type 2 Diabetes. Evidence: 9/10. Source: PMID 29632382. Slightly Higher Risk.
Gout. Evidence: 8/10. Source: PMID 31578528. Typical Urate.
Inflammation. Evidence: 4/10. Source: PMID 21195701. Slightly Lower CRP.
Showing effects for C/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Higher LDL.
Heart Disease. Evidence: 9/10. Source: PMID 29212778. Higher Risk.
Type 2 Diabetes. Evidence: 9/10. Source: PMID 29632382. Higher Risk.
Inflammation. Evidence: 4/10. Source: PMID 21195701. Lower CRP.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Having the A/A genotype means carrying two copies of the ancestral isoleucine-encoding allele. This genetic profile is linked to typical levels of LDL and total cholesterol, avoiding the genetic elevation seen in carriers of the variant allele [1]. Consequently, individuals with this genotype maintain a standard baseline risk for coronary artery disease and myocardial infarction [2]. They also have a typical baseline risk for developing type 2 diabetes [3]. However, this genotype is associated with slightly higher levels of serum urate, which can marginally increase the risk of gout [4]. Overall, this profile is highly favorable for cardiovascular and metabolic health compared to carrying the variant allele.
Typical LDL cholesterol levels; Standard baseline cardiovascular risk; Slightly higher urate levels.
Sample genotype: AC (Heterozygous)
This genotype features one copy of the ancestral allele and one copy of the leucine-encoding variant allele. This single copy is sufficient to cause a modest increase in both LDL and total cholesterol levels [1]. Because of these elevated lipid levels, carriers face a slightly higher risk of developing coronary artery disease and experiencing a myocardial infarction over their lifetime [2]. There is also a small increase in the risk of type 2 diabetes, particularly when combined with other metabolic risk factors like weight gain [3]. On the positive side, this genotype is associated with slightly lower levels of C-reactive protein, indicating reduced systemic inflammation [4]. It is also linked to slightly lower urate levels, which may offer minor protection against gout [5].
Slightly elevated LDL cholesterol; Modestly increased cardiovascular risk; Slightly lower systemic inflammation.
Sample genotype: CC (Homozygous)
Having the C/C genotype means carrying two copies of the leucine-encoding variant allele in the HNF1A gene. This genetic profile is strongly associated with elevated levels of LDL and total cholesterol [1]. These higher lipid levels contribute directly to an increased risk of coronary artery disease and myocardial infarction [2]. Additionally, this genotype is linked to a higher risk of developing type 2 diabetes [3]. Interestingly, despite these elevated cardiovascular risks, individuals with this genotype tend to have lower circulating levels of C-reactive protein, a common marker of inflammation [4]. They also exhibit lower serum urate levels, which reduces the risk of gout [5]. Managing cardiovascular health through diet, exercise, and regular lipid screenings is particularly beneficial for this genotype.
Elevated LDL cholesterol levels; Increased risk of coronary artery disease; Lower systemic inflammation.
Variants with shared genetic architecture
rs1183910 · HNF1A Gene · Chr 12 · Baseline Inflammation
rs1800574 · HNF1A Gene · Chr 12 · Type 2 Diabetes Risk
rs2244608 · HNF1A Gene · Chr 12 · Heart Disease Risk
Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment.
Biological, clinical and population relevance of 95 loci for blood lipids.
Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes.
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Content updated August 2026.
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