What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 6/10 evidence, 28 publications.
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Sample genotype (not yours): C/C
Typical Heart and Liver Health Risk
Inheriting two copies of the common C allele is associated with baseline levels of cholesterol and liver enzymes. This genetic profile does not carry the risk factor for elevated coronary artery disease associated with this variant.
What this genotype means: Typical baseline risk for coronary artery disease; Standard circulating LDL cholesterol levels; Normal baseline liver enzyme levels.
Sample genotype (not yours): A/A
Higher Heart and Liver Risk
Two copies of the A allele are associated with elevated LDL cholesterol and liver enzymes. This genotype is linked to the highest relative risk of coronary artery disease and heart attacks for this variant.
What this genotype means: Increased risk of coronary artery disease and heart attacks; Elevated LDL and total cholesterol levels; Elevated liver enzymes (ALT, AST, and alkaline phosphatase).
Sample genotype (not yours): C/A
Slightly Higher Heart and Liver Risk
A single copy of the A allele is associated with slightly elevated levels of LDL cholesterol and liver enzymes. This genetic profile is linked to a modest increase in the risk of coronary artery disease.
What this genotype means: Slightly increased risk of coronary artery disease; Slightly elevated LDL and total cholesterol; Mildly elevated liver enzymes (ALT and AST).
Gene function and biological role
Gene Function: TRIM5 encodes tripartite motif-containing protein 5, which is widely recognized for its role in innate immunity and retroviral restriction [1]. The protein is known to promote interferon-gamma signaling in macrophages, helping coordinate the body's early defense systems [2]. Emerging research indicates that TRIM5 also plays a role in systemic inflammatory pathways that affect vascular health [2]. Large-scale genetic analyses have linked variations in this gene to circulating lipid levels and cardiovascular outcomes [3].
Variant Impact: The rs11601507 variant is a missense mutation in the TRIM5 gene that results in a structural change from valine to phenylalanine at position 112 of the protein [1]. This amino acid substitution alters the protein's biochemical properties and is thought to modify its downstream signaling activity [1]. The change has been identified as a likely causal variant for coronary artery disease risk [2]. It is also strongly associated with elevated liver enzymes and altered lipid profiles, suggesting a systemic metabolic impact [4].
Key Insight: This antiviral gene variant unexpectedly acts as a metabolic regulator, simultaneously influencing liver enzymes, blood lipids, and heart disease risk.
Location: TRIM5. Chromosome 11 · 11p15.4 · 5.7 Mb
Estimated prevalence by population
Global 87.9%; European 85.8%; African 96.9%; East Asian 82.8%; South Asian 64.4%; Americas 85.5%; Ashkenazi 82.3%; Finnish 84.7%; Middle Eastern 90.1%; Amish 89.3%.
Estimated CC genotype frequency.
Global 11.5%; European 13.6%; African 3.1%; East Asian 16.4%; South Asian 31.7%; Americas 14.0%; Ashkenazi 16.9%; Finnish 14.7%; Middle Eastern 9.7%; Amish 10.4%.
Estimated CA genotype frequency.
Global 0.5%; European 0.5%; African < 0.1%; East Asian 0.8%; South Asian 3.9%; Americas 0.6%; Ashkenazi 0.9%; Finnish 0.6%; Middle Eastern 0.3%; Amish 0.3%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 36474045. Typical Risk.
Heart Attack. Evidence: 6/10. Source: PMID 33532862. Typical Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Typical Levels.
Organ Systems
Liver Function & Disease
Liver Enzyme Levels. Evidence: 10/10. Source: PMID 33547301. Typical Levels.
Showing effects for A/A genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 36474045. ~1.12x Risk.
Heart Attack. Evidence: 6/10. Source: PMID 33532862. ~1.14x Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Elevated.
Liver Enzyme Levels. Evidence: 10/10. Source: PMID 33547301. Elevated.
Showing effects for C/A genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 36474045. ~1.06x Risk.
Heart Attack. Evidence: 6/10. Source: PMID 33532862. ~1.07x Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Slightly Elevated.
Liver Enzyme Levels. Evidence: 10/10. Source: PMID 33547301. Slightly Elevated.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Inheriting two copies of the C allele represents the most common genetic profile globally [1]. This genotype is associated with typical levels of low-density lipoprotein (LDL) cholesterol and total cholesterol [1] [2]. It also correlates with normal baseline levels of liver enzymes, including alanine aminotransferase (ALT) and aspartate aminotransferase (AST) [3]. Because this profile lacks the risk-increasing A allele, it is linked to a standard baseline risk for coronary artery disease and myocardial infarction [4]. Maintaining a balanced diet and regular exercise remains key to supporting cardiovascular and metabolic health.
Typical baseline risk for coronary artery disease; Standard circulating LDL cholesterol levels; Normal baseline liver enzyme levels.
Sample genotype: AA (Homozygous)
Two copies of the A allele are associated with the most pronounced metabolic and cardiovascular changes at this locus. This genotype is linked to significantly higher levels of total cholesterol, LDL cholesterol, and apolipoprotein B [1] [2]. It also correlates with elevated liver enzymes, including ALT, AST, and alkaline phosphatase, reflecting altered hepatic metabolism [3]. Research indicates that this profile is associated with an increased risk of coronary artery disease and myocardial infarction [4]. Proactive lifestyle choices, such as a heart-healthy diet and regular cardiovascular screenings, are particularly relevant for managing these risks.
Increased risk of coronary artery disease and heart attacks; Elevated LDL and total cholesterol levels; Elevated liver enzymes (ALT, AST, and alkaline phosphatase).
Sample genotype: CA (Heterozygous)
A single copy of the A allele is associated with a modest shift in metabolic and cardiovascular markers. This genetic variant correlates with slightly higher levels of circulating LDL cholesterol and total cholesterol [1] [2]. It is also linked to mild elevations in liver enzymes such as ALT and AST, which are common biomarkers of liver metabolic activity [3]. Clinical data indicate that this profile carries a slightly increased risk of developing coronary artery disease, with an odds ratio of approximately 1.06 [4]. Individuals with this genotype may benefit from routine lipid panels and cardiovascular health monitoring.
Slightly increased risk of coronary artery disease; Slightly elevated LDL and total cholesterol; Mildly elevated liver enzymes (ALT and AST).
Variants with shared genetic architecture
rs1169288 · HNF1A Gene · Chr 12 · Cardiovascular Risk
rs12740374 · CELSR2 Gene · Chr 1 · Heart Disease and Cholesterol
rs139624145 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
The power of genetic diversity in genome-wide association studies of lipids.
Content updated August 2026.
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