What you carry at this position in your DNA and what research says about it.
Kidney Disease Risk: 10/10 evidence, 13 publications.
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Sample genotype (not yours): A/A
Typical Kidney Disease Risk
Two copies of the reference allele are present, representing the baseline genetic profile for renal health. This genotype does not carry the APOL1 G1 risk variant.
What this genotype means: Typical baseline risk of kidney disease; No genetic protection against African sleeping sickness.
Sample genotype (not yours): A/G
Moderately Increased Kidney Risk
One copy of the G1 risk variant is present, which moderately increases the risk of kidney disease while offering protection against African sleeping sickness.
What this genotype means: Moderately increased risk of chronic kidney disease; Enhanced protection against African sleeping sickness.
Sample genotype (not yours): G/G
Significantly Increased Kidney Risk
Two copies of the G1 risk variant are present, which is linked to a significantly higher risk of progressive kidney disease.
What this genotype means: Significantly increased risk of chronic kidney disease; High resistance to African sleeping sickness parasites.
Gene function and biological role
Gene Function: The APOL1 gene encodes apolipoprotein L1, a protein that plays a critical role in the innate immune system [1]. It is primarily produced by the liver and circulates in the bloodstream bound to high-density lipoprotein (HDL) particles [2]. APOL1 acts as a natural defense mechanism by lysing and killing certain types of parasites, specifically trypanosomes [1]. However, specific evolutionary changes in this gene that protect against parasitic infection also alter the protein's function in kidney cells [3]. These changes can lead to cellular stress, inflammatory responses, and damage to the kidney's filtering units [3].
Variant Impact: The rs73885319 variant represents a missense mutation in the APOL1 gene that alters the amino acid at position 342 from serine to glycine [4]. This specific change, known as the G1 risk variant, is in near-perfect linkage disequilibrium with another missense variant, p.Ile384Met [4]. Together, these two mutations define the G1 haplotype, which is highly prevalent in populations of African descent [5]. While the G1 variant enhances the blood's ability to neutralize the parasites that cause African sleeping sickness, it simultaneously increases susceptibility to kidney injury [1]. The altered protein is thought to cause toxicity in specialized kidney cells called podocytes, leading to progressive renal decline [1].
Key Insight: The same genetic variant that increases the risk of chronic kidney disease actually evolved as a survival mechanism to protect against African sleeping sickness.
Location: APOL1. Chromosome 22 · 22q12.3 · 36.3 Mb
Origin Story: The G1 variant of APOL1 underwent a rapid evolutionary sweep in sub-Saharan Africa over the last 10,000 years because carrying even a single copy provides dominant protection against Trypanosoma brucei, the tsetse-fly-borne parasite responsible for deadly African sleeping sickness.
Estimated prevalence by population
Global 88.8%; European > 99.9%; African 60.5%; East Asian 100.0%; South Asian 100.0%; Americas 97.4%; Ashkenazi 100.0%; Finnish 100.0%; Middle Eastern 99.3%; Amish 100.0%.
Estimated AA genotype frequency.
Global 9.8%; European < 0.1%; African 34.6%; East Asian 0.0%; South Asian 0.0%; Americas 2.6%; Ashkenazi 0.0%; Finnish 0.0%; Middle Eastern 0.7%; Amish 0.0%.
Estimated AG genotype frequency.
Global 1.4%; European < 0.1%; African 4.9%; East Asian 0.0%; South Asian 0.0%; Americas < 0.1%; Ashkenazi 0.0%; Finnish 0.0%; Middle Eastern < 0.1%; Amish 0.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Kidney Function & Disease
Kidney Disease. Evidence: 10/10. Source: PMID 20635188. Typical Risk.
Glomerular Kidney Disease. Evidence: 10/10. Source: PMID 21997394. Typical Risk.
Immunity & Inflammation
Infection Susceptibility & Resistance
Sleeping Sickness Resistance. Evidence: 5/10. Source: PMID 20635188. Typical Resistance.
Cardiovascular & Metabolic
Vascular Health & Aneurysm
Arterial Disease. Evidence: 8/10. Source: PMID 24379297. Typical Risk.
Showing effects for A/G genotype
Kidney Disease. Evidence: 10/10. Source: PMID 20635188. ~3x Higher Risk.
Glomerular Kidney Disease. Evidence: 10/10. Source: PMID 21997394. Slightly Increased.
Sleeping Sickness Resistance. Evidence: 5/10. Source: PMID 20635188. High Resistance.
Arterial Disease. Evidence: 8/10. Source: PMID 24379297. Slightly Increased.
Showing effects for G/G genotype
Kidney Disease. Evidence: 10/10. Source: PMID 20635188. ~6x Higher Risk.
Glomerular Kidney Disease. Evidence: 10/10. Source: PMID 21997394. Increased Risk.
Arterial Disease. Evidence: 8/10. Source: PMID 24379297. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Maintaining two copies of the reference A allele is associated with a typical, baseline risk for chronic kidney disease and related renal conditions [1]. Because this genotype lacks the G1 variant, there is no elevated risk for focal segmental glomerulosclerosis or rapid kidney function decline associated with this locus [2]. However, this baseline profile does not provide the specialized evolutionary protection against African sleeping sickness parasites found in G allele carriers [3]. Standard health guidelines and routine kidney function monitoring remain appropriate as part of general wellness. Overall renal health is influenced by a combination of lifestyle, blood pressure management, and other genetic factors.
Typical baseline risk of kidney disease; No genetic protection against African sleeping sickness.
Sample genotype: AG (Heterozygous)
Carrying a single G allele introduces the APOL1 G1 variant, which is associated with a moderate increase in the risk of developing chronic kidney disease and end-stage renal disease [1]. Although many clinical models treat APOL1-associated kidney disease as primarily recessive, large-scale cohort studies indicate that single-copy carriers may still experience a mild to moderate elevation in risk compared to non-carriers [2]. On the beneficial side, carrying one copy of this variant provides robust protection against the parasites that cause African sleeping sickness [3]. This dual nature reflects a classic evolutionary trade-off where a survival advantage against infectious disease persists alongside a chronic health risk. Monitoring blood pressure and routine kidney biomarkers is a proactive way to manage overall renal health.
Moderately increased risk of chronic kidney disease; Enhanced protection against African sleeping sickness.
Sample genotype: GG (Homozygous)
Having two copies of the G allele represents the high-risk APOL1 genotype, which is strongly associated with progressive kidney diseases such as focal segmental glomerulosclerosis and end-stage renal failure [1]. This genetic profile can lead to accelerated loss of kidney function, particularly when triggered by secondary factors like high blood pressure, viral infections, or inflammation [2]. The altered APOL1 proteins can cause cellular stress and damage to the kidney's filtration barriers [3]. Despite this elevated risk, many individuals with this genotype never develop severe kidney disease, highlighting the importance of environmental factors and lifestyle. Regular medical checkups, including blood pressure control and simple urine or blood tests to monitor kidney function, are highly recommended for proactive health management.
Significantly increased risk of chronic kidney disease; High resistance to African sleeping sickness parasites.
Variants with shared genetic architecture
rs60910145 · APOL1 Gene · Chr 22 · Kidney Disease Risk
rs2237897 · KCNQ1 Gene · Chr 11 · Type 2 Diabetes Risk
rs137854521 · ANO5 Gene · Chr 11 · Muscular Dystrophy Risk
APOL1 toxin, innate immunity, and kidney injury.
APOL1 G1 genotype modifies the association between HDLC and kidney function in African Americans.
APOL1 risk variants, race, and progression of chronic kidney disease.
APOL1 kidney risk alleles: population genetics and disease associations.
APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy.
Content updated August 2026.
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