What you carry at this position in your DNA and what research says about it.
Gallstone Risk: 10/10 evidence, 37 publications.
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Sample genotype (not yours): G/G
Typical Gallstone Risk and Higher LDL Cholesterol
Carrying two copies of the common G allele is associated with a typical, baseline risk of developing gallstones. However, this genotype is also linked to higher circulating levels of LDL and total cholesterol.
What this genotype means: Typical baseline risk for gallstone development; Higher circulating LDL and total cholesterol levels.
Sample genotype (not yours): C/C
Significantly Increased Gallstone Risk and Lowest LDL Cholesterol
Carrying two copies of the C allele is linked to an estimated sevenfold increase in gallstone risk. On the positive side, this genotype is associated with the lowest circulating LDL cholesterol levels.
What this genotype means: Estimated sevenfold increase in gallstone risk; Lowest circulating LDL and total cholesterol levels; Reduced response to statin medications.
Sample genotype (not yours): G/C
Increased Gallstone Risk and Lower LDL Cholesterol
Carrying one copy of the C allele increases the risk of developing gallstones by approximately twofold. Conversely, this genetic change is associated with lower circulating LDL cholesterol levels.
What this genotype means: Approximately twofold increase in gallstone risk; Lower circulating LDL and total cholesterol levels; Slightly reduced response to statin medications.
Gene function and biological role
Gene Function: The ABCG5 and ABCG8 genes encode proteins that partner to form a functional sterol transporter in the liver and intestines. This transporter, known as sterolin, plays a critical role in pumping excess cholesterol out of the body and into the bile for excretion [1]. When these genes function normally, they help maintain healthy cholesterol balance and prevent the accumulation of plant sterols [2]. Genetic variations in this transporter can significantly alter how much cholesterol is secreted into the gallbladder [1]. Consequently, these changes can influence both circulating blood cholesterol levels and the likelihood of developing gallstones [1].
Variant Impact: The rs11887534 variant is a missense change in the ABCG8 gene that alters the amino acid at position 19 from aspartic acid to histidine. This specific change, often called the D19H variant, creates a gain-of-function transporter that hyper-secretes cholesterol into the bile [3]. Because the bile becomes supersaturated with cholesterol, it crystallizes much more easily into solid stones [3]. Interestingly, while this process increases gallstone risk, it simultaneously lowers circulating blood cholesterol because more cholesterol is being cleared from the body [4]. This dual effect makes the variant a key genetic link between liver function, biliary health, and cardiovascular lipid profiles [4].
Key Insight: While this variant significantly increases the risk of painful gallstones, it simultaneously lowers circulating LDL cholesterol, demonstrating a direct genetic trade-off between digestive and cardiovascular health.
Location: ABCG8. Chromosome 2 · 2p21 · 43.8 Mb
Estimated prevalence by population
Global 87.5%; European 87.6%; African 87.4%; East Asian 97.0%; South Asian 93.0%; Americas 86.6%; Ashkenazi 82.9%; Finnish 83.0%; Middle Eastern 89.3%; Amish 90.6%.
Estimated GG genotype frequency.
Global 12.0%; European 12.0%; African 12.2%; East Asian 3.0%; South Asian 6.9%; Americas 12.9%; Ashkenazi 16.3%; Finnish 16.2%; Middle Eastern 10.4%; Amish 9.2%.
Estimated GC genotype frequency.
Global 0.4%; European 0.4%; African 0.4%; East Asian < 0.1%; South Asian 0.1%; Americas 0.5%; Ashkenazi 0.8%; Finnish 0.8%; Middle Eastern 0.3%; Amish 0.2%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Organ Systems
Digestive & Gut Disorders
Gallstones. Evidence: 10/10. Source: PMID 17632509. Typical Risk.
Liver Function & Disease
Liver Enzyme Levels. Evidence: 6/10. Source: PMID 33547301. Typical Levels.
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 9/10. Source: PMID 41044249. Higher Levels.
Pharmacogenomics
Lipid-Lowering Drug Response
Statin Response. Evidence: 5/10. Source: PMID 34173968. Typical Response.
Showing effects for C/C genotype
Gallstones. Evidence: 10/10. Source: PMID 17632509. ~7x Increased Risk.
Liver Enzyme Levels. Evidence: 6/10. Source: PMID 33547301. Elevated.
LDL Cholesterol. Evidence: 9/10. Source: PMID 41044249. Lowest Levels.
Statin Response. Evidence: 5/10. Source: PMID 34173968. Reduced Response.
Showing effects for G/C genotype
Gallstones. Evidence: 10/10. Source: PMID 17632509. ~2x Increased Risk.
Liver Enzyme Levels. Evidence: 6/10. Source: PMID 33547301. Slightly Elevated.
LDL Cholesterol. Evidence: 9/10. Source: PMID 41044249. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
The G/G genotype means the hepatic sterolin transporter functions at its standard baseline rate. This standard rate prevents excess cholesterol from being hyper-secreted into the gallbladder, maintaining a typical risk for gallstone formation [1]. On the other hand, because less cholesterol is pumped into the bile for excretion, more remains in the bloodstream [2]. This results in higher average levels of low-density lipoprotein (LDL) cholesterol, very-low-density lipoprotein (VLDL) cholesterol, and apolipoprotein B [2]. Individuals with this genotype generally show a typical, expected response to cholesterol-lowering statin medications [3]. Maintaining a heart-healthy diet and regular exercise can help manage the naturally higher circulating cholesterol levels associated with this baseline genetic profile [2].
Typical baseline risk for gallstone development; Higher circulating LDL and total cholesterol levels.
Sample genotype: CC (Homozygous)
Two copies of the C allele lead to a highly active ABCG8 transporter that continuously pumps cholesterol into the gallbladder [1]. This dramatic increase in biliary cholesterol saturation significantly elevates the risk of developing gallstones and related gallbladder diseases [1]. Conversely, this rapid clearance of cholesterol from the bloodstream results in highly favorable, lower levels of LDL and total cholesterol [2]. Individuals with this genotype may also have elevated levels of the liver enzyme alanine aminotransferase (ALT), indicating altered hepatic metabolic activity [3]. Furthermore, research indicates a potentially reduced lipid-lowering response to statin therapies like atorvastatin [4]. Proactive lifestyle strategies, such as maintaining a healthy weight and eating a high-fiber diet, are particularly beneficial for managing the high gallstone risk associated with this genotype [1].
Estimated sevenfold increase in gallstone risk; Lowest circulating LDL and total cholesterol levels; Reduced response to statin medications.
Sample genotype: GC (Heterozygous)
The presence of one C allele alters the ABCG8 transporter, causing it to pump more cholesterol from the liver into the bile [1]. This excess biliary cholesterol increases the likelihood of crystallization, raising the risk of gallstones and gallbladder inflammation [1]. However, because more cholesterol is excreted into the digestive tract, circulating blood levels of LDL and total cholesterol are naturally lower [2]. Some studies suggest that carriers of this variant may also experience a slightly reduced response to certain statin medications like atorvastatin or simvastatin [3]. Additionally, this genotype is associated with slightly elevated levels of the liver enzyme alanine aminotransferase (ALT) [4]. Monitoring gallbladder health and discussing lipid management with a physician can help navigate these contrasting cardiovascular and digestive effects [1].
Approximately twofold increase in gallstone risk; Lower circulating LDL and total cholesterol levels; Slightly reduced response to statin medications.
Variants with shared genetic architecture
rs4245791 · ABCG8 Gene · Chr 2 · Gallstone Risk
rs4299376 · ABCG8 Gene · Chr 2 · Heart and Gallstone Risk
rs6544713 · ABCG8 Gene · Chr 2 · Heart Disease Risk
A genetic map of human metabolism across the allele frequency spectrum.
Content updated August 2026.
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