What you carry at this position in your DNA and what research says about it.
Heart and Liver Health: 10/10 evidence, 38 publications.
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Sample genotype (not yours): A/A
Highest Heart and Fatty Liver Risk
Two copies of the A allele are associated with elevated cholesterol, higher liver enzymes, and an increased risk of cardiovascular events. This genotype is also linked to a slightly lower average body mass index.
What this genotype means: Elevated total and non-HDL cholesterol; Increased risk of fatty liver disease; Higher risk of cardiovascular events.
Sample genotype (not yours): A/G
Moderately Increased Heart and Liver Risk
One copy of the A allele moderately elevates cholesterol levels and liver enzymes, slightly increasing the risk of heart disease and fatty liver.
What this genotype means: Mildly elevated cholesterol levels; Slightly increased risk of fatty liver; Moderate risk of cardiovascular events.
Sample genotype (not yours): G/G
Lower Heart and Fatty Liver Risk
Two copies of the G allele provide protection against high cholesterol and fatty liver disease, though they are linked to a slightly higher average body mass index.
What this genotype means: Optimal cholesterol and triglyceride levels; Lower risk of fatty liver disease; Reduced risk of heart attacks.
Gene function and biological role
Gene Function: The TRIB1 gene encodes tribbles pseudokinase 1, a scaffold protein that plays a critical role in regulating hepatic lipid metabolism and cardiovascular health [1]. It controls the degradation of key transcription factors in the liver, thereby modulating the expression of genes involved in lipogenesis and lipoprotein clearance [2]. Experimental models show that altering TRIB1 expression directly impacts circulating levels of cholesterol and triglycerides [3]. Additionally, this gene is highly expressed in hepatocytes, where it helps maintain a delicate balance between fat storage and secretion [2].
Variant Impact: The rs2954021 variant is an intergenic genetic marker located near the TRIB1 gene on chromosome 8 [4]. This genetic variation acts as a major regulator of TRIB1 expression, influencing how efficiently the liver processes fats and clears them from the bloodstream [2]. The A allele is strongly associated with elevated levels of circulating lipids, including total cholesterol and triglycerides [3]. Conversely, this same allele is linked to higher activity of liver enzymes, indicating a potential impact on hepatic fat accumulation [1].
Key Insight: This variant acts as a metabolic pivot, where the allele that increases your risk for heart disease and fatty liver actually correlates with a slightly lower body mass index.
Location: TRIB1. Chromosome 8 · 8q24.13 · 125.5 Mb
Estimated prevalence by population
Global 21.6%; European 24.0%; African 13.3%; East Asian 21.1%; South Asian 29.8%; Americas 27.7%; Ashkenazi 34.4%; Finnish 21.4%; Middle Eastern 34.6%; Amish 11.7%.
Estimated AA genotype frequency.
Global 48.9%; European 50.0%; African 46.4%; East Asian 49.7%; South Asian 49.6%; Americas 49.9%; Ashkenazi 48.5%; Finnish 49.7%; Middle Eastern 48.4%; Amish 45.0%.
Estimated AG genotype frequency.
Global 29.6%; European 26.0%; African 40.3%; East Asian 29.2%; South Asian 20.6%; Americas 22.5%; Ashkenazi 17.1%; Finnish 28.8%; Middle Eastern 16.9%; Amish 43.3%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Heart Attack. Evidence: 8/10. Source: PMID 33532862. ~1.12x Higher Risk.
Lipids & Cholesterol
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Elevated Levels.
Obesity & Body Composition
Body Mass Index. Evidence: 8/10. Source: PMID 30239722. Slightly Lower BMI.
Organ Systems
Liver Function & Disease
Fatty Liver Disease. Evidence: 9/10. Source: PMID 33339817. Increased Risk.
Vision & Eye Health
Retinal Health. Evidence: 3/10. Source: PMID 33654266. ~1.66x Higher Risk.
Showing effects for A/G genotype
Heart Attack. Evidence: 8/10. Source: PMID 33532862. ~1.06x Higher Risk.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Slightly Elevated.
Body Mass Index. Evidence: 8/10. Source: PMID 30239722. Typical BMI.
Fatty Liver Disease. Evidence: 9/10. Source: PMID 33339817. Slightly Increased.
Retinal Health. Evidence: 3/10. Source: PMID 33654266. ~1.33x Higher Risk.
Showing effects for G/G genotype
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Typical Risk.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Typical Levels.
Body Mass Index. Evidence: 8/10. Source: PMID 30239722. Slightly Higher BMI.
Fatty Liver Disease. Evidence: 9/10. Source: PMID 33339817. Typical Risk.
Retinal Health. Evidence: 3/10. Source: PMID 33654266. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele significantly alters the liver's ability to regulate circulating lipids, leading to higher baseline levels of total cholesterol and triglycerides [1]. This metabolic shift is associated with an increased risk of myocardial infarction and coronary artery disease [2]. The liver also shows signs of increased fat accumulation, reflected in higher circulating levels of liver enzymes like alanine aminotransferase [3]. Interestingly, while cardiovascular and hepatic risks are elevated, this genetic profile is consistently linked to a slightly lower body mass index [4]. Additionally, there is an established association with an increased susceptibility to macular telangiectasia type 2, a rare degenerative disease affecting the retina [5]. Managing cardiovascular health through routine lipid panels and liver function tests is often recommended for individuals with this profile.
Elevated total and non-HDL cholesterol; Increased risk of fatty liver disease; Higher risk of cardiovascular events.
Sample genotype: AG (Heterozygous)
Having a heterozygous genotype means carrying one risk-associated A allele and one protective G allele, resulting in an intermediate metabolic profile. Circulating levels of total cholesterol, non-HDL cholesterol, and triglycerides tend to be slightly higher than the baseline average [1]. This elevation contributes to a moderate increase in the risk of cardiovascular issues, such as myocardial infarction [2]. Liver enzyme levels, specifically alanine aminotransferase, are also mildly elevated, suggesting a slight predisposition to hepatic fat accumulation [3]. On the other hand, the presence of the G allele balances out the BMI-lowering effect of the A allele, resulting in a typical body mass index [4]. There is also a moderate increase in susceptibility to macular telangiectasia type 2 compared to those with the G/G genotype [5]. Maintaining a balanced diet and monitoring cardiovascular markers can help mitigate these moderate genetic risks.
Mildly elevated cholesterol levels; Slightly increased risk of fatty liver; Moderate risk of cardiovascular events.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele is highly protective for cardiovascular and hepatic health. This genotype is associated with lower circulating levels of total cholesterol, non-HDL cholesterol, and triglycerides [1]. Consequently, the risk of experiencing a myocardial infarction or developing coronary artery disease is significantly reduced [2]. Liver health is also optimized, as indicated by lower baseline levels of hepatic enzymes like alanine aminotransferase, which points to minimal fat accumulation in the liver [3]. Although this genetic profile is highly favorable for heart and liver function, it is associated with a slightly higher average body mass index [4]. Furthermore, this genotype offers strong protection against macular telangiectasia type 2, keeping retinal disease risk at baseline [5]. Overall, this profile represents a robust metabolic defense against common cardiovascular and hepatic complications.
Optimal cholesterol and triglyceride levels; Lower risk of fatty liver disease; Reduced risk of heart attacks.
Variants with shared genetic architecture
rs17321515 · TRIB1 Gene · Chr 8 · Blood Lipid Levels
rs2954029 · TRIB1 Gene · Chr 8 · Heart Disease Risk
rs2954022 · TRIB1 Gene · Chr 8 · Blood Lipids
Genome-wide characterization of circulating metabolic biomarkers.
A large electronic-health-record-based genome-wide study of serum lipids.
A cross-population atlas of genetic associations for 220 human phenotypes.
Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
Content updated August 2026.
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