What you carry at this position in your DNA and what research says about it.
Triglycerides and Liver Health: 8/10 evidence, 23 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): G/G
Lower Triglycerides and Typical Liver Enzymes
This genotype is associated with lower triglyceride levels and typical liver enzyme activity. It also correlates with slightly higher testosterone levels.
What this genotype means: Lower triglyceride levels; Typical liver enzyme levels; Slightly higher testosterone.
Sample genotype (not yours): G/T
Intermediate Triglycerides and Liver Enzymes
This genotype is associated with intermediate triglyceride levels and typical liver enzyme activity. It represents a balanced metabolic profile between the two homozygous forms.
What this genotype means: Typical triglyceride levels; Typical liver enzyme levels.
Sample genotype (not yours): T/T
Higher Triglycerides and Elevated Liver Enzymes
This genotype is associated with higher triglyceride levels and elevated liver enzymes. It is also linked to a slightly higher body mass index (BMI).
What this genotype means: Higher triglyceride levels; Elevated liver enzymes; Slightly higher BMI.
Gene function and biological role
Gene Function: PCCB encodes the beta subunit of the mitochondrial enzyme propionyl-CoA carboxylase, which is essential for breaking down certain amino acids, odd-chain fatty acids, and cholesterol [1]. Rare mutations in this gene can lead to propionic acidemia, a severe metabolic disorder [2]. In addition to its role in rare disorders, common genetic variation near the PCCB locus has been linked to broader metabolic traits, including lipid levels and liver enzyme activity [3].
Variant Impact: The rs645040 variant is located in an intergenic region near the PCCB gene on chromosome 3. This genetic change acts as an expression regulator, influencing how nearby metabolic genes are read and utilized by cells [1]. Studies show that this variant has a significant impact on circulating triglyceride levels and liver function markers [1] [2]. It also shows associations with hormone levels, such as testosterone and sex hormone-binding globulin [4].
Key Insight: The rs645040 variant acts as a metabolic bridge, simultaneously influencing lipid levels, liver enzymes, and sex hormone concentrations.
Location: PCCB. Chromosome 3 · 3q22.3 · 136.2 Mb
Estimated prevalence by population
Global 5.7%; European 4.7%; African 8.6%; East Asian 1.8%; South Asian 6.0%; Americas 4.9%; Ashkenazi 9.5%; Finnish 1.8%; Middle Eastern 8.2%; Amish 10.6%.
Estimated GG genotype frequency.
Global 35.4%; European 34.0%; African 41.5%; East Asian 23.3%; South Asian 37.0%; Americas 34.5%; Ashkenazi 42.6%; Finnish 23.3%; Middle Eastern 40.8%; Amish 43.9%.
Estimated GT genotype frequency.
Global 58.9%; European 61.2%; African 49.9%; East Asian 74.9%; South Asian 56.9%; Americas 60.6%; Ashkenazi 47.9%; Finnish 74.8%; Middle Eastern 51.0%; Amish 45.5%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Triglycerides. Evidence: 8/10. Source: PMID 20686565. Lower Levels.
Obesity & Body Composition
Body Mass Index. Evidence: 8/10. Source: PMID 30239722. Typical BMI.
Organ Systems
Liver Function & Disease
ALT Liver Enzyme. Evidence: 10/10. Source: PMID 33547301. Typical Levels.
Alkaline Phosphatase. Evidence: 8/10. Source: PMID 33339817. Typical Levels.
Endocrine & Reproductive
Hormone Levels & Endocrine Regulation
Testosterone Levels. Evidence: 8/10. Source: PMID 34321204. Slightly Higher.
Showing effects for G/T genotype
Triglycerides. Evidence: 8/10. Source: PMID 20686565. Typical Levels.
Testosterone Levels. Evidence: 8/10. Source: PMID 34321204. Typical.
Showing effects for T/T genotype
Triglycerides. Evidence: 8/10. Source: PMID 20686565. Higher Levels.
Body Mass Index. Evidence: 8/10. Source: PMID 30239722. Slightly Higher BMI.
ALT Liver Enzyme. Evidence: 10/10. Source: PMID 33547301. Elevated Levels.
Alkaline Phosphatase. Evidence: 8/10. Source: PMID 33339817. Slightly Higher.
Testosterone Levels. Evidence: 8/10. Source: PMID 34321204. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
A double dose of the G allele is generally favorable for metabolic and liver health. Research shows that this genotype is linked to lower circulating triglycerides, which supports cardiovascular wellness [1]. It is also associated with lower levels of alanine aminotransferase (ALT) and alkaline phosphatase, indicating typical liver function and less hepatic stress [2]. Additionally, this genotype correlates with slightly higher testosterone and sex hormone-binding globulin levels [3]. Maintaining a balanced diet and regular exercise can further optimize these metabolic advantages.
Lower triglyceride levels; Typical liver enzyme levels; Slightly higher testosterone.
Sample genotype: GT (Heterozygous)
A heterozygous combination of alleles results in an intermediate metabolic profile. Triglyceride levels and liver enzyme activities, such as alanine aminotransferase (ALT), are typically in the average range [1] [2]. This genotype also shows intermediate levels of testosterone and sex hormone-binding globulin [3]. Because it does not carry the double dose of the risk-associated T allele, metabolic risks remain typical. Standard healthy lifestyle choices, including a balanced diet, are sufficient to maintain optimal metabolic health.
Typical triglyceride levels; Typical liver enzyme levels.
Sample genotype: TT (Homozygous)
A double dose of the T allele is associated with a higher metabolic risk profile. Research indicates that this genotype correlates with elevated circulating triglycerides, which can impact cardiovascular health over time [1]. It is also linked to higher levels of liver enzymes like alanine aminotransferase (ALT) and alkaline phosphatase, which can be markers of liver stress [2]. Furthermore, studies have associated this genotype with a slightly higher body mass index (BMI) [3]. Focusing on a low-triglyceride diet, limiting alcohol, and staying active can help manage these genetic tendencies.
Higher triglyceride levels; Elevated liver enzymes; Slightly higher BMI.
Variants with shared genetic architecture
rs684773 · PCCB Gene · Chr 3 · Triglyceride Levels
rs10184004 · COBLL1 Gene · Chr 2 · Type 2 Diabetes Risk
rs1077834 · LIPC Gene · Chr 15 · Cholesterol and Liver Health
Direct and indirect genetic effects on triglycerides through omics and correlated phenotypes.
Biological, clinical and population relevance of 95 loci for blood lipids.
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com