What you carry at this position in your DNA and what research says about it.
Metabolic Health: 8/10 evidence, 35 publications.
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Sample genotype (not yours): A/A
Favorable Metabolic Profile and Higher Waist-to-Hip Ratio
A unique metabolic pattern characterizes this profile, offering protection against type 2 diabetes and high triglycerides. It also correlates with a slightly higher waist-to-hip ratio, demonstrating that abdominal fat distribution can sometimes be genetically uncoupled from metabolic harm.
What this genotype means: Lower risk of type 2 diabetes; Higher HDL cholesterol levels; Slightly higher waist-to-hip ratio.
Sample genotype (not yours): A/G
Typical Metabolic Risk and Body Fat Distribution
A balanced genetic influence results in typical baseline risks for type 2 diabetes and cardiovascular health. Body fat distribution and cholesterol levels generally align with average population ranges.
What this genotype means: Typical risk of type 2 diabetes; Average cholesterol and triglyceride levels; Standard body fat distribution.
Sample genotype (not yours): G/G
Higher Metabolic Risk and Lower Waist-to-Hip Ratio
An elevated risk of type 2 diabetes and higher triglyceride levels are associated with this profile. Conversely, it is linked to a slightly lower baseline waist-to-hip ratio.
What this genotype means: Increased risk of type 2 diabetes; Higher baseline triglycerides; Slightly lower waist-to-hip ratio.
Gene function and biological role
Gene Function: Chromosome 5 open reading frame 67, known as C5orf67, is a protein-coding gene whose precise cellular functions remain under active scientific investigation. Large-scale genomic analyses frequently link this genetic region to human metabolic architecture and fat distribution patterns [1]. Researchers study this locus to understand how specific genetic variations can influence lipid levels and glycemic control [2]. The gene sits in a chromosomal region that appears crucial for coordinating how the body stores fat and processes energy [3].
Variant Impact: Located downstream of the C5orf67 gene, the rs459193 variant is a single-nucleotide change that influences metabolic health and body fat distribution. This specific genetic marker is highly notable for its ability to uncouple physical body shape from typical metabolic consequences [1]. It alters the genetic predisposition to both abdominal fat storage and insulin sensitivity [4]. Studies across diverse populations show that this variant helps determine individual baselines for blood pressure, cholesterol, and blood sugar [5].
Key Insight: This variant can uncouple body shape from metabolic risk, meaning a genetically higher waist-to-hip ratio does not automatically lead to poorer cardiovascular health.
Location: C5orf67. Chromosome 5 · 5q11.2 · 56.5 Mb
Estimated prevalence by population
Global 10.6%; European 6.6%; African 17.5%; East Asian 25.0%; South Asian 13.8%; Americas 6.2%; Ashkenazi 3.5%; Finnish 10.5%; Middle Eastern 16.4%; Amish 3.8%.
Estimated AA genotype frequency.
Global 41.9%; European 38.2%; African 48.7%; East Asian 50.0%; South Asian 46.7%; Americas 37.5%; Ashkenazi 30.3%; Finnish 43.8%; Middle Eastern 48.2%; Amish 31.4%.
Estimated AG genotype frequency.
Global 47.5%; European 55.2%; African 33.8%; East Asian 25.0%; South Asian 39.6%; Americas 56.3%; Ashkenazi 66.2%; Finnish 45.8%; Middle Eastern 35.4%; Amish 64.8%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 8/10. Source: PMID 30054458. Lower Risk.
Obesity & Body Composition
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 25673412. Slightly Higher.
Lipids & Cholesterol
HDL Cholesterol. Evidence: 8/10. Source: PMID 30275531. Slightly Higher.
Triglycerides. Evidence: 8/10. Source: PMID 30275531. Slightly Lower.
Hypertension
Systolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Slightly Lower.
Showing effects for A/G genotype
Type 2 Diabetes. Evidence: 8/10. Source: PMID 30054458. Typical Risk.
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 25673412. Typical.
HDL Cholesterol. Evidence: 8/10. Source: PMID 30275531. Typical.
Triglycerides. Evidence: 8/10. Source: PMID 30275531. Typical.
Systolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Typical.
Showing effects for G/G genotype
Type 2 Diabetes. Evidence: 8/10. Source: PMID 30054458. ~1.1x Higher Risk.
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 25673412. Slightly Lower.
HDL Cholesterol. Evidence: 8/10. Source: PMID 30275531. Slightly Lower.
Triglycerides. Evidence: 8/10. Source: PMID 30275531. Slightly Higher.
Systolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Slightly Higher.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele establishes a highly favorable metabolic baseline despite a tendency toward a higher waist-to-hip ratio [1]. Large-scale genomic studies show that this specific genetic makeup significantly lowers the risk of developing type 2 diabetes [2]. It is also associated with healthier cardiovascular markers, including higher HDL cholesterol and lower circulating triglycerides [3]. Blood pressure readings, specifically systolic pressure, tend to be lower with this profile [4]. Researchers refer to this phenomenon as favorable adiposity, where fat is stored in a metabolically safe manner [1]. Maintaining a balanced lifestyle remains beneficial, but this genetic background provides a natural buffer against common metabolic conditions.
Lower risk of type 2 diabetes; Higher HDL cholesterol levels; Slightly higher waist-to-hip ratio.
Sample genotype: AG (Heterozygous)
Possessing one A allele and one G allele results in an intermediate metabolic profile that closely mirrors general population averages. This genetic combination balances the protective metabolic effects of the A allele with the higher-risk profile of the G allele [1]. Baseline risks for type 2 diabetes and high blood pressure remain at typical levels [2]. Cholesterol markers, such as HDL and triglycerides, generally fall within standard ranges [3]. Physical traits like waist-to-hip ratio and height are not strongly skewed in either direction by this locus [4]. Standard dietary and exercise habits will play the primary role in shaping overall metabolic health. Regular wellness checkups can help monitor blood sugar and lipid levels over time.
Typical risk of type 2 diabetes; Average cholesterol and triglyceride levels; Standard body fat distribution.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele is associated with an increased susceptibility to type 2 diabetes and metabolic challenges [1]. This genetic profile correlates with higher fasting blood glucose and elevated triglyceride levels [2]. Systolic blood pressure and pulse pressure also tend to be slightly higher compared to other genotypes [3]. Interestingly, this profile is linked to a lower waist-to-hip ratio, showing that a leaner midsection does not always guarantee perfect metabolic health [4]. This pattern represents a form of unfavorable adiposity, where metabolic risks are elevated despite a typical body shape [4]. Focusing on a nutrient-rich diet and regular physical activity is particularly useful for managing these genetic tendencies. Monitoring blood sugar and lipid panels during routine medical visits can provide valuable health insights.
Increased risk of type 2 diabetes; Higher baseline triglycerides; Slightly lower waist-to-hip ratio.
Variants with shared genetic architecture
rs3936510 · C5orf67 Gene · Chr 5 · Abdominal Fat Distribution
rs9686661 · C5orf67 Gene · Chr 5 · Metabolic Health
rs11429307 · C5orf67 Gene · Chr 5 · Triglyceride Levels
Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
New genetic loci link adipose and insulin biology to body fat distribution.
Content updated August 2026.
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