What you carry at this position in your DNA and what research says about it.
Cholesterol and Eye Health: 8/10 evidence, 23 publications.
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Sample genotype (not yours): A/A
Favorable Lipid Profile and Lower Vision Risks
This genotype is associated with higher levels of protective HDL cholesterol and a lower risk of age-related macular degeneration. It also correlates with a more favorable response to certain cholesterol-lowering medications.
What this genotype means: Higher circulating HDL cholesterol; Lower risk of age-related macular degeneration; Enhanced response to atorvastatin therapy.
Sample genotype (not yours): A/G
Elevated Risk for Age-Related Macular Degeneration
This genotype is associated with a significantly higher risk of developing age-related macular degeneration. Cholesterol levels and cardiovascular risks generally remain near the population average.
What this genotype means: Significantly higher risk of macular degeneration; Typical circulating HDL cholesterol levels; Average response to statin medications.
Sample genotype (not yours): G/G
Lower HDL Cholesterol and Higher Cardiovascular Risk
This genotype is associated with lower levels of protective HDL cholesterol and a higher risk of coronary artery disease. Macular degeneration risk remains near the typical baseline.
What this genotype means: Lower circulating HDL cholesterol; Increased risk of coronary artery disease; Typical baseline risk for macular degeneration.
Gene function and biological role
Gene Function: The SCARB1 gene encodes scavenger receptor class B member 1, a major cell surface receptor for high-density lipoprotein (HDL) cholesterol. This receptor plays a critical role in reverse cholesterol transport, the pathway that clears excess cholesterol from peripheral tissues and transports it back to the liver for excretion [1]. Beyond lipid transport, SCARB1 is highly expressed in the retina, where it facilitates the uptake of essential dietary carotenoids and fat-soluble vitamins like lutein and vitamin E [2]. Proper functioning of this receptor is vital for maintaining both cardiovascular health and retinal integrity.
Variant Impact: The rs5888 variant is a synonymous change in exon 8 of the SCARB1 gene, meaning it does not alter the encoded amino acid sequence of alanine at position 350. However, this silent mutation is functional, as the alternative G allele is associated with lower protein expression and reduced receptor activity [3]. This reduction in receptor function alters the rate of cholesterol uptake and transport, leading to shifts in circulating lipid levels [4]. Additionally, the altered receptor expression in the eye affects the delivery of protective macular pigments, influencing susceptibility to age-related vision changes [2].
Key Insight: Although rs5888 is a synonymous mutation that does not change the protein sequence, it significantly alters how much of the SCARB1 receptor is produced, directly impacting both heart and eye health.
Location: SCARB1. Chromosome 12 · 12q24.31 · 124.8 Mb
Estimated prevalence by population
Global 15.5%; European 22.7%; African 3.5%; East Asian 6.3%; South Asian 20.7%; Americas 12.9%; Ashkenazi 32.5%; Finnish 15.3%; Middle Eastern 24.0%; Amish 19.6%.
Estimated AA genotype frequency.
Global 43.6%; European 49.9%; African 30.6%; East Asian 37.6%; South Asian 49.6%; Americas 46.0%; Ashkenazi 49.0%; Finnish 47.6%; Middle Eastern 50.0%; Amish 49.4%.
Estimated AG genotype frequency.
Global 40.9%; European 27.4%; African 65.9%; East Asian 56.2%; South Asian 29.7%; Americas 41.1%; Ashkenazi 18.5%; Finnish 37.0%; Middle Eastern 26.0%; Amish 31.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
HDL Cholesterol. Evidence: 8/10. Source: PMID 31719535. Higher HDL.
Heart Disease
Coronary Artery Disease. Evidence: 4/10. Source: PMID 24151447. Lower Risk.
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 4/10. Source: PMID 27428740. Lower Risk.
Pharmacogenomics
Lipid-Lowering Drug Response
Atorvastatin Response. Evidence: 5/10. Source: PMID 20064494. Stronger Response.
Showing effects for A/G genotype
HDL Cholesterol. Evidence: 8/10. Source: PMID 31719535. Typical HDL.
Coronary Artery Disease. Evidence: 4/10. Source: PMID 24151447. Typical Risk.
Macular Degeneration. Evidence: 4/10. Source: PMID 27428740. ~3x Higher Risk.
Atorvastatin Response. Evidence: 5/10. Source: PMID 20064494. Typical Response.
Showing effects for G/G genotype
HDL Cholesterol. Evidence: 8/10. Source: PMID 31719535. Lower HDL.
Coronary Artery Disease. Evidence: 4/10. Source: PMID 24151447. Higher Risk.
Macular Degeneration. Evidence: 4/10. Source: PMID 27428740. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Having two copies of the A allele is linked to optimal functioning of the SCARB1 receptor, which promotes efficient reverse cholesterol transport [1]. This efficient transport results in higher circulating levels of HDL cholesterol, which is generally considered protective against cardiovascular disease [2]. Clinical studies also indicate that this genotype is associated with a significantly lower risk of developing age-related macular degeneration compared to carriers of the G allele [3]. Furthermore, individuals with this genotype may experience a more pronounced reduction in bad cholesterol when treated with the statin medication atorvastatin [4].
Higher circulating HDL cholesterol; Lower risk of age-related macular degeneration; Enhanced response to atorvastatin therapy.
Sample genotype: AG (Heterozygous)
Carrying one copy of each allele is strongly associated with an increased susceptibility to age-related macular degeneration [1]. Clinical data suggests that heterozygotes have up to a three-fold higher risk of developing this vision-impairing condition, particularly the exudative form [2]. This increased risk is thought to stem from altered transport of essential carotenoids like lutein and zeaxanthin to the retina, which are necessary to protect the macula from oxidative damage [3]. While eye health risks are elevated, overall HDL cholesterol levels and general cardiovascular risk profiles typically remain intermediate or close to the population average [4].
Significantly higher risk of macular degeneration; Typical circulating HDL cholesterol levels; Average response to statin medications.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele is associated with reduced expression of the SCARB1 receptor, which impairs the body's ability to process and transport cholesterol efficiently [1]. This reduction in receptor activity leads to lower circulating levels of protective HDL cholesterol [2]. Consequently, individuals with this genotype have a higher documented risk of developing premature coronary artery disease and experiencing myocardial infarction [3]. While cardiovascular risks are elevated, the risk of developing age-related macular degeneration remains at the typical baseline rate, as this genotype does not carry the specific risk associated with the heterozygous state [4].
Lower circulating HDL cholesterol; Increased risk of coronary artery disease; Typical baseline risk for macular degeneration.
Variants with shared genetic architecture
rs10846744 · SCARB1 Gene · Chr 12 · Heart Disease Risk
rs11057830 · SCARB1 Gene · Chr 12 · Heart Disease Risk
rs10468017 · LIPC Gene · Chr 15 · Cholesterol and Eye Health
The SCARB1 rs5888 SNP and serum lipid levels in the Guangxi Mulao and Han populations.
Content updated August 2026.
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