What you carry at this position in your DNA and what research says about it.
Cholesterol and Gallstone Risk: 6/10 evidence, 17 publications.
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Sample genotype (not yours): T/T
Elevated Cholesterol and Higher Gallstone Risk
Elevated levels of LDL cholesterol and triglycerides are associated with this genotype. It significantly increases the risk of developing gallstones and heart-related conditions.
What this genotype means: Elevated LDL cholesterol; Increased risk of gallstones; Higher risk of cardiovascular issues.
Sample genotype (not yours): C/C
Typical Cholesterol Levels and Lower Gallstone Risk
Optimal cholesterol processing is associated with this genotype. It helps maintain typical LDL cholesterol and triglyceride levels, reducing the risk of cardiovascular issues and gallstones.
What this genotype means: Typical LDL cholesterol levels; Lower risk of gallstones; Typical cardiovascular risk profile.
Sample genotype (not yours): T/C
Moderately Elevated Cholesterol and Gallstone Risk
Slightly higher LDL cholesterol and triglyceride levels are linked to this genotype. This genetic variation moderately increases the likelihood of developing gallstones and cardiovascular issues.
What this genotype means: Moderately elevated LDL cholesterol; Slightly increased risk of gallstones; Slightly higher risk of cardiovascular issues.
Gene function and biological role
Gene Function: CYP7A1 encodes cholesterol 7-alpha-hydroxylase, the rate-limiting enzyme that converts cholesterol into bile acids in the liver [1]. This conversion is the primary pathway for removing excess cholesterol from the human body [1]. When CYP7A1 activity is reduced, less cholesterol is converted to bile acids, leading to an accumulation of cholesterol in the liver and bloodstream [2]. This process can downregulate low-density lipoprotein receptors, resulting in secondary hypercholesterolemia and an increased risk of cardiovascular disease [2]. Conversely, proper enzyme function helps maintain healthy lipid levels and prevents cholesterol from crystallizing into gallstones [2].
Variant Impact: Located near the 3' end of the CYP7A1 gene on chromosome 8, rs2081687 is an intergenic genetic marker [1]. This genetic change is strongly associated with altered blood lipid levels, particularly low-density lipoprotein (LDL) cholesterol and triglycerides [1] [2]. The T allele of this variant is linked to higher circulating levels of LDL cholesterol and total cholesterol [2]. This elevation in circulating lipids is thought to stem from reduced expression or activity of the cholesterol 7-alpha-hydroxylase enzyme [1]. Consequently, individuals carrying the T allele have a higher risk of developing both gallstone disease and coronary artery disease [3].
Key Insight: This genetic variant links cardiovascular health and digestive health through a single liver enzyme that converts cholesterol into bile acids.
Location: CYP7A1. Chromosome 8 · 8q12.1 · 58.5 Mb
Estimated prevalence by population
Global 9.6%; European 11.9%; African 6.0%; East Asian 4.7%; South Asian 11.0%; Americas 5.7%; Ashkenazi 9.6%; Finnish 15.7%; Middle Eastern 7.2%; Amish 12.5%.
Estimated TT genotype frequency.
Global 41.7%; European 45.2%; African 37.1%; East Asian 34.0%; South Asian 44.3%; Americas 36.3%; Ashkenazi 42.8%; Finnish 47.8%; Middle Eastern 39.3%; Amish 45.7%.
Estimated TC genotype frequency.
Global 48.7%; European 42.8%; African 56.9%; East Asian 61.3%; South Asian 44.6%; Americas 58.1%; Ashkenazi 47.6%; Finnish 36.5%; Middle Eastern 53.5%; Amish 41.8%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Elevated LDL.
Triglycerides. Evidence: 10/10. Source: PMID 32203549. Elevated Levels.
Heart Disease
Heart Health. Evidence: 6/10. Source: PMID 32203549. Increased Risk.
Organ Systems
Digestive & Gut Disorders
Gallstones. Evidence: 6/10. Source: PMID 34594039. Increased Risk.
Nutrition & Metabolism
Macronutrient Metabolism
Fatty Acid Levels. Evidence: 8/10. Source: PMID 40545721. Lower Levels.
Showing effects for C/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Typical LDL.
Triglycerides. Evidence: 10/10. Source: PMID 32203549. Typical Levels.
Heart Health. Evidence: 6/10. Source: PMID 32203549. Typical Risk.
Gallstones. Evidence: 6/10. Source: PMID 34594039. Typical Risk.
Fatty Acid Levels. Evidence: 8/10. Source: PMID 40545721. Higher Levels.
Showing effects for T/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Moderately Elevated.
Triglycerides. Evidence: 10/10. Source: PMID 32203549. Moderately Elevated.
Heart Health. Evidence: 6/10. Source: PMID 32203549. Slightly Increased.
Gallstones. Evidence: 6/10. Source: PMID 34594039. Slightly Increased.
Fatty Acid Levels. Evidence: 8/10. Source: PMID 40545721. Typical Levels.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Inheriting two copies of the T allele represents the highest genetic risk at this locus. Having two T alleles is strongly associated with elevated low-density lipoprotein (LDL) cholesterol and total cholesterol levels [1]. The genetic change reduces the liver's ability to convert cholesterol into bile acids, which is the body's primary method for eliminating excess cholesterol [2]. Consequently, cholesterol levels rise in the bloodstream, increasing the risk of arterial plaque buildup [2]. This metabolic slowdown also makes the bile highly saturated with cholesterol, significantly raising the risk of gallstone formation [3]. Clinical studies have linked this genotype to an increased risk of myocardial infarction and coronary artery disease [4]. Proactive lifestyle choices, such as regular exercise and limiting saturated fats, are highly beneficial for individuals with this profile.
Elevated LDL cholesterol; Increased risk of gallstones; Higher risk of cardiovascular issues.
Sample genotype: CC (Homozygous)
Representing the most common genetic profile globally, this genotype serves as the baseline for cholesterol metabolism. Having two copies of the C allele is linked to typical levels of low-density lipoprotein (LDL) cholesterol and total cholesterol [1]. Because the underlying CYP7A1 gene functions efficiently, cholesterol is steadily converted into bile acids for excretion [2]. This efficient clearance prevents excess cholesterol from accumulating in the bloodstream or crystallizing in the gallbladder [2]. As a result, individuals with this genotype have a lower risk of developing gallstones compared to T allele carriers [3]. They also exhibit a lower risk of coronary artery disease and myocardial infarction [4]. Maintaining a balanced diet rich in fiber can further support this natural lipid-clearing pathway.
Typical LDL cholesterol levels; Lower risk of gallstones; Typical cardiovascular risk profile.
Sample genotype: TC (Heterozygous)
Presence of one copy of the T risk allele is associated with a moderate increase in circulating lipids. Studies show that having one T allele leads to a stepwise increase in low-density lipoprotein (LDL) cholesterol and total cholesterol [1]. This occurs because the T allele is linked to reduced expression of the CYP7A1 gene, which slows the conversion of cholesterol to bile acids [2]. When less cholesterol is converted, more of it remains in circulation and can build up in the liver [2]. This metabolic bottleneck also increases the risk of cholesterol crystallizing into gallstones [3]. Furthermore, the resulting lipid profile is associated with a moderately higher risk of coronary artery disease [4]. Regular cardiovascular screenings and a heart-healthy diet can help manage these genetic tendencies.
Moderately elevated LDL cholesterol; Slightly increased risk of gallstones; Slightly higher risk of cardiovascular issues.
Variants with shared genetic architecture
rs3808607 · CYP7A1 Gene · Chr 8 · Cholesterol Metabolism
rs10790162 · BUD13 Gene · Chr 11 · Triglyceride Levels
rs183130 · CETP Gene · Chr 16 · HDL Cholesterol Levels
A genetic map of human metabolism across the allele frequency spectrum.
Biological, clinical and population relevance of 95 loci for blood lipids.
A cross-population atlas of genetic associations for 220 human phenotypes.
Content updated August 2026.
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