What you carry at this position in your DNA and what research says about it.
Pregnancy Cholestasis Risk: 10/10 evidence, 14 publications.
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Sample genotype (not yours): A/A
Typical Liver and Cholesterol Levels
This genotype is associated with standard bile transport efficiency and typical baseline cholesterol levels.
What this genotype means: Typical pregnancy liver function; Standard cholesterol levels; Normal statin clearance.
Sample genotype (not yours): A/G
Moderately Increased Risk of Pregnancy Cholestasis
Having one copy of the G allele is linked to a moderately higher risk of pregnancy-related liver strain and slightly lower LDL cholesterol.
What this genotype means: Moderately higher risk of pregnancy-related itching; Slightly lower LDL cholesterol; Slower rosuvastatin metabolism.
Sample genotype (not yours): G/G
Higher Risk of Pregnancy Cholestasis
Carrying two copies of the G allele is associated with a nearly threefold higher risk of pregnancy-related liver strain and lower LDL cholesterol.
What this genotype means: Increased risk of pregnancy-related liver itching; Lower baseline LDL cholesterol; Slower clearance of rosuvastatin.
Gene function and biological role
Gene Function: The ABCB11 gene encodes the bile salt export pump, a transport protein highly active in the liver [1]. This pump is responsible for moving bile acids out of liver cells and into the bile ducts for excretion [1]. Proper function of this transporter is crucial to prevent the toxic buildup of bile salts within liver tissue [1]. Genetic variations in this gene can reduce the pump's efficiency, leading to various forms of cholestasis, where bile flow is impaired [1]. It also plays a role in how the liver processes and clears certain medications, including statins [2].
Variant Impact: The rs2287622 variant is a missense mutation in the ABCB11 gene that alters the amino acid at position 444 from valine to alanine [1]. This specific change, commonly known as V444A, is associated with a significant reduction in the expression of the bile salt export pump on liver cell membranes [1]. With fewer active transporters, the liver's capacity to clear bile acids is diminished, particularly under physiological stress [3]. This variant is also linked to subtle differences in circulating lipid levels and the metabolism of certain drugs [2].
Key Insight: The same genetic variant that increases susceptibility to pregnancy-related liver itching also influences how your body processes cholesterol-lowering statins.
Location: ABCB11. Chromosome 2 · 2q31.1 · 169.0 Mb
Estimated prevalence by population
Global 18.6%; European 16.2%; African 18.8%; East Asian 8.0%; South Asian 18.7%; Americas 28.9%; Ashkenazi 18.0%; Finnish 23.9%; Middle Eastern 19.3%; Amish 11.6%.
Estimated AA genotype frequency.
Global 48.5%; European 48.1%; African 49.1%; East Asian 40.6%; South Asian 49.1%; Americas 49.7%; Ashkenazi 48.9%; Finnish 50.0%; Middle Eastern 49.3%; Amish 44.9%.
Estimated AG genotype frequency.
Global 33.0%; European 35.6%; African 32.1%; East Asian 51.3%; South Asian 32.3%; Americas 21.4%; Ashkenazi 33.1%; Finnish 26.2%; Middle Eastern 31.5%; Amish 43.5%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Endocrine & Reproductive
Pregnancy & Birth Complications
Pregnancy Cholestasis. Evidence: 4/10. Source: PMID 18987030. Typical Risk.
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 32203549. Typical Levels.
Pharmacogenomics
Lipid-Lowering Drug Response
Rosuvastatin Clearance. Evidence: 5/10. Source: PMID 30100615. Standard Clearance.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 7/10. Source: PMID 36224396. Typical Height.
Showing effects for A/G genotype
Pregnancy Cholestasis. Evidence: 4/10. Source: PMID 18987030. ~1.7x Higher Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 32203549. Slightly Lower.
Rosuvastatin Clearance. Evidence: 5/10. Source: PMID 30100615. Slower Metabolism.
Height. Evidence: 7/10. Source: PMID 36224396. Slightly Taller.
Showing effects for G/G genotype
Pregnancy Cholestasis. Evidence: 4/10. Source: PMID 18987030. ~2.8x Higher Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 32203549. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele means encoding the typical valine residue at position 444 of the bile salt export pump [1]. This configuration maintains standard protein expression and efficient transport of bile acids out of liver cells [1]. Consequently, there is no genetic predisposition to intrahepatic cholestasis of pregnancy or contraceptive-induced liver strain from this variant [2]. Additionally, individuals with this genotype show typical baseline levels of LDL and total cholesterol [3]. When prescribed rosuvastatin, they exhibit standard drug metabolism and clearance rates [4]. This genotype represents the baseline reference state for both liver transport and lipid profiles.
Typical pregnancy liver function; Standard cholesterol levels; Normal statin clearance.
Sample genotype: AG (Heterozygous)
Carrying one copy of the G allele results in a mixture of valine and alanine at position 444 of the bile salt export pump [1]. This single-copy change leads to a moderate reduction in the expression of the pump on liver cell membranes [1]. Under the hormonal demands of pregnancy, this reduction can limit bile acid clearance, resulting in a 1.7-fold higher risk of developing intrahepatic cholestasis of pregnancy [1]. Affected individuals may experience temporary liver strain or itching during gestation [1]. This genotype is also associated with slightly lower levels of LDL and total cholesterol [2]. Furthermore, it can lead to slower metabolism of the cholesterol-lowering medication rosuvastatin, potentially increasing its concentration in the blood [3].
Moderately higher risk of pregnancy-related itching; Slightly lower LDL cholesterol; Slower rosuvastatin metabolism.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele means encoding alanine at position 444 of the bile salt export pump, which significantly reduces its expression in the liver [1]. This reduction impairs the liver's ability to efficiently export bile salts, particularly when estrogen levels are elevated [1]. As a result, individuals with this genotype have an estimated 2.8-fold higher risk of developing intrahepatic cholestasis of pregnancy [1]. This condition is characterized by intense itching and elevated bile acids during the later stages of pregnancy [1]. Beyond pregnancy, this genotype is associated with slightly lower levels of LDL and total cholesterol [2]. It also correlates with slower clearance of rosuvastatin, which may affect how the body responds to this statin [3].
Increased risk of pregnancy-related liver itching; Lower baseline LDL cholesterol; Slower clearance of rosuvastatin.
Variants with shared genetic architecture
rs10401969 · SUGP1 Gene · Chr 19 · Cholesterol and Liver Risk
rs114165349 · ARID1A Gene · Chr 1 · Lipid and Gout Risk
rs11887534 · ABCG8 Gene · Chr 2 · Gallstone Risk
Content updated August 2026.
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