What you carry at this position in your DNA and what research says about it.
Metabolic Health Risk: 9/10 evidence, 12 publications.
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Sample genotype (not yours): A/A
Lower Risk of Diabetes and Hypertension
This genotype is linked to a higher body fat percentage but offers strong protection against type 2 diabetes and high blood pressure. It represents a favorable fat storage pattern that maintains metabolic health.
What this genotype means: Lower risk of type 2 diabetes; Lower average blood pressure; Higher protective HDL cholesterol.
Sample genotype (not yours): A/G
Balanced Metabolic and Fat Storage Profile
This genotype represents an intermediate profile, balancing a moderate body fat percentage with average metabolic risks. It carries a typical risk for diabetes, blood pressure, and cholesterol levels.
What this genotype means: Typical risk of type 2 diabetes; Average blood pressure levels; Moderate body fat percentage.
Sample genotype (not yours): G/G
Higher Risk of Diabetes and Hypertension
This genotype is linked to a leaner body profile but carries a higher risk of developing type 2 diabetes and high blood pressure. It is associated with less favorable fat storage, leading to metabolic strain despite lower overall body fat.
What this genotype means: Increased risk of type 2 diabetes; Higher average blood pressure; Lower protective HDL cholesterol.
Gene function and biological role
Gene Function: The LOC105375508 region is closely linked to the KLF14 gene, which acts as a master regulator of fat storage and metabolic health [1]. This gene coordinates how the body distributes fat and responds to insulin [1]. Research shows that variations in this regulatory network can alter the expression of genes in adipose tissue [1]. These changes directly influence lipid levels and insulin sensitivity [2]. Consequently, this genetic region plays a pivotal role in determining whether fat is stored safely or in a way that promotes metabolic disease [1].
Variant Impact: The rs972283 variant is an intronic change that influences the expression of nearby metabolic regulators [1]. This genetic change creates a distinct trade-off between body fat percentage and metabolic disease risk [1]. While one version of the variant is linked to higher body fat, it paradoxically protects against insulin resistance and cardiovascular issues [1]. Conversely, the other version is associated with a leaner frame but a higher risk of metabolic complications [3]. This phenomenon demonstrates that body fat distribution and quality can be more important than total fat mass [1].
Key Insight: This variant reveals a paradox where carrying more body fat can actually be paired with a healthier metabolic profile and lower diabetes risk.
Location: KLF14. Chromosome 7 · 7q32.2 · 130.8 Mb
Estimated prevalence by population
Global 15.3%; European 23.3%; African 2.6%; East Asian 9.1%; South Asian 14.9%; Americas 13.7%; Ashkenazi 14.3%; Finnish 19.7%; Middle Eastern 14.0%; Amish 6.9%.
Estimated AA genotype frequency.
Global 42.7%; European 49.9%; African 26.9%; East Asian 42.1%; South Asian 47.4%; Americas 46.6%; Ashkenazi 47.1%; Finnish 49.4%; Middle Eastern 46.8%; Amish 38.8%.
Estimated AG genotype frequency.
Global 42.0%; European 26.7%; African 70.5%; East Asian 48.8%; South Asian 37.7%; Americas 39.6%; Ashkenazi 38.6%; Finnish 30.9%; Middle Eastern 39.2%; Amish 54.3%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 6/10. Source: PMID 20581827. Decreased Risk.
Hypertension
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Lower.
Obesity & Body Composition
Body Fat Percentage. Evidence: 9/10. Source: PMID 33980691. Higher.
Lipids & Cholesterol
HDL Cholesterol. Evidence: 8/10. Source: PMID 33980691. Higher.
Triglycerides. Evidence: 8/10. Source: PMID 33980691. Lower.
Organ Systems
Liver Function & Disease
Liver Enzyme Levels. Evidence: 8/10. Source: PMID 33980691. Lower ALT.
Showing effects for A/G genotype
Type 2 Diabetes. Evidence: 6/10. Source: PMID 20581827. Typical.
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Typical.
Body Fat Percentage. Evidence: 9/10. Source: PMID 33980691. Typical.
HDL Cholesterol. Evidence: 8/10. Source: PMID 33980691. Typical.
Triglycerides. Evidence: 8/10. Source: PMID 33980691. Typical.
Liver Enzyme Levels. Evidence: 8/10. Source: PMID 33980691. Typical ALT.
Showing effects for G/G genotype
Type 2 Diabetes. Evidence: 6/10. Source: PMID 20581827. Increased Risk.
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Higher.
Body Fat Percentage. Evidence: 9/10. Source: PMID 33980691. Lower.
HDL Cholesterol. Evidence: 8/10. Source: PMID 33980691. Lower.
Triglycerides. Evidence: 8/10. Source: PMID 33980691. Higher.
Liver Enzyme Levels. Evidence: 8/10. Source: PMID 33980691. Higher ALT.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele is associated with a higher body fat percentage but a significantly lower risk of metabolic diseases [1]. This profile represents a favorable adiposity phenotype, where fat is stored safely under the skin rather than around vital organs [1]. Studies show a reduced risk of developing type 2 diabetes for individuals with this genetic makeup [2]. It is also linked to lower systolic and diastolic blood pressure, reducing the likelihood of hypertension [3]. Furthermore, this genotype is associated with higher levels of protective HDL cholesterol and lower triglycerides [1]. Liver enzyme levels also tend to be lower, indicating better metabolic liver health [1]. Despite the tendency toward a higher body mass index, the overall metabolic profile remains highly favorable [1].
Lower risk of type 2 diabetes; Lower average blood pressure; Higher protective HDL cholesterol.
Sample genotype: AG (Heterozygous)
Carrying one copy of each allele results in a balanced genetic influence on body composition and metabolic health [1]. This intermediate profile typically leads to average body fat percentages and moderate metabolic risks [1]. The risk for developing type 2 diabetes is close to the population average [2]. Blood pressure levels and cardiovascular risk factors generally fall within the typical range [3]. While there is a slight trade-off between fat accumulation and insulin sensitivity, neither effect dominates [1]. Cholesterol profiles, including HDL and triglycerides, usually remain at baseline levels [1]. This balanced state means that standard health and wellness guidelines are highly effective [3].
Typical risk of type 2 diabetes; Average blood pressure levels; Moderate body fat percentage.
Sample genotype: GG (Homozygous)
Having two copies of the G allele is associated with a lower body fat percentage but a higher risk of metabolic complications [1]. Large-scale genetic studies link this genotype to an increased risk of type 2 diabetes [2]. It is also associated with higher systolic and diastolic blood pressure [3]. This pattern represents an unfavorable adiposity phenotype, where fat may be stored around internal organs rather than safely under the skin [1]. Additionally, this genotype is linked to lower levels of protective HDL cholesterol and higher triglycerides [1]. Elevated liver enzymes like alanine aminotransferase are also more common with this profile [1]. Managing cardiovascular risk factors through lifestyle choices remains highly important for individuals with this genetic background [3].
Increased risk of type 2 diabetes; Higher average blood pressure; Lower protective HDL cholesterol.
Variants with shared genetic architecture
rs4731702 · KLF14 Gene · Chr 7 · Metabolic Health and Diabetes
rs459193 · C5orf67 Gene · Chr 5 · Metabolic Health
rs11688682 · GLI2 Gene · Chr 2 · Type 2 Diabetes Risk
The power of genetic diversity in genome-wide association studies of lipids.
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
Content updated August 2026.
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