What you carry at this position in your DNA and what research says about it.
Kidney Health: 9/10 evidence, 13 publications.
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Sample genotype (not yours): A/A
Typical Kidney Function
Standard kidney filtration rates and typical baseline risk for chronic kidney disease characterize this genetic profile.
What this genotype means: Typical estimated glomerular filtration rate (eGFR); Standard baseline risk of chronic kidney disease.
Sample genotype (not yours): A/G
Slightly Better Kidney Function
A single copy of the G allele is linked to slightly higher kidney filtration rates and a modestly lower risk of chronic kidney disease.
What this genotype means: Modestly higher estimated glomerular filtration rate (eGFR); Slightly lower risk of chronic kidney disease.
Sample genotype (not yours): G/G
Better Kidney Function
Two copies of the G allele are associated with significantly higher kidney filtration rates and a lower risk of chronic kidney disease.
What this genotype means: Higher estimated glomerular filtration rate (eGFR); Lower risk of chronic kidney disease.
Gene function and biological role
Gene Function: NAT8 encodes N-acetyltransferase 8, an enzyme primarily active in the liver and kidneys [1]. It plays a critical role in detoxification by catalyzing the acetylation of various amino acids and foreign compounds, facilitating their excretion in urine [1]. Proper functioning of this enzyme is essential for maintaining metabolic balance and preventing the accumulation of potentially toxic metabolic byproducts [2]. Variations in this gene are major genetic determinants of kidney health and systemic metabolite levels [2].
Variant Impact: A missense mutation in the NAT8 gene changes the amino acid phenylalanine to serine at position 143 (p.Phe143Ser). This structural change significantly alters the enzymatic activity of N-acetyltransferase 8. The G allele encodes the serine variant, which is associated with altered acetylation of several amino acids, including ornithine and histidine. These metabolic changes directly influence kidney filtration efficiency and overall renal health.
Key Insight: The NAT8 gene acts as a molecular filter in the kidneys, and variations in its structure directly alter how efficiently the body clears metabolic waste products.
Location: NAT8. Chromosome 2 · 2p13.1 · 73.6 Mb
Estimated prevalence by population
Global 51.3%; European 60.4%; African 21.2%; East Asian 99.1%; South Asian 74.6%; Americas 54.6%; Ashkenazi 67.6%; Finnish 65.5%; Middle Eastern 65.0%; Amish 54.4%.
Estimated AA genotype frequency.
Global 37.3%; European 34.7%; African 49.7%; East Asian 0.9%; South Asian 23.5%; Americas 38.6%; Ashkenazi 29.2%; Finnish 30.9%; Middle Eastern 31.3%; Amish 38.7%.
Estimated AG genotype frequency.
Global 11.4%; European 5.0%; African 29.1%; East Asian < 0.1%; South Asian 1.8%; Americas 6.8%; Ashkenazi 3.2%; Finnish 3.6%; Middle Eastern 3.8%; Amish 6.9%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Kidney Function & Disease
Kidney Function. Evidence: 8/10. Source: PMID 20383146. Typical eGFR.
Kidney Disease. Evidence: 9/10. Source: PMID 20383146. Typical Risk.
Blood Urea Nitrogen. Evidence: 6/10. Source: PMID 37277652. Typical Levels.
Nutrition & Metabolism
Blood Chemistry & Metabolites
N-Acetylornithine Levels. Evidence: 9/10. Source: PMID 37277652. Typical Levels.
Showing effects for A/G genotype
Kidney Function. Evidence: 8/10. Source: PMID 20383146. Slightly Higher eGFR.
Kidney Disease. Evidence: 9/10. Source: PMID 20383146. Slightly Lower Risk.
Blood Urea Nitrogen. Evidence: 6/10. Source: PMID 37277652. Slightly Lower Levels.
N-Acetylornithine Levels. Evidence: 9/10. Source: PMID 37277652. Slightly Lower Levels.
Showing effects for G/G genotype
Kidney Function. Evidence: 8/10. Source: PMID 20383146. Higher eGFR.
Kidney Disease. Evidence: 9/10. Source: PMID 20383146. Lower Risk.
Blood Urea Nitrogen. Evidence: 6/10. Source: PMID 37277652. Lower Levels.
N-Acetylornithine Levels. Evidence: 9/10. Source: PMID 37277652. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Representing the most common genetic baseline globally, this genetic profile encodes the typical phenylalanine amino acid at position 143 of the NAT8 enzyme. Individuals with this genotype exhibit standard levels of kidney filtration as measured by estimated glomerular filtration rate (eGFR) [1]. They also have typical baseline susceptibility to chronic kidney disease [1]. Because the NAT8 enzyme functions at standard capacity, levels of various N-acetylated amino acids in the blood and urine remain at typical baseline levels [2]. There are no elevated risks or unique protective benefits associated with this genotype.
Typical estimated glomerular filtration rate (eGFR); Standard baseline risk of chronic kidney disease.
Sample genotype: AG (Heterozygous)
A single copy of the protective G allele encodes a serine residue at position 143 of the NAT8 enzyme. Having this variant is associated with a modest increase in the estimated glomerular filtration rate (eGFR), indicating slightly more efficient kidney filtering [1]. It also correlates with a reduced risk of developing chronic kidney disease [1]. The presence of the G allele alters the acetylation of several amino acids, leading to lower circulating levels of metabolites like N-acetylornithine, which are markers of renal stress [2]. This genotype provides a mild, lifelong protective buffer for renal health.
Modestly higher estimated glomerular filtration rate (eGFR); Slightly lower risk of chronic kidney disease.
Sample genotype: GG (Homozygous)
Possessing two copies of the protective G allele results in a fully modified NAT8 enzyme with serine at position 143. Individuals with this genotype experience the greatest benefit, showing significantly higher estimated glomerular filtration rates (eGFR) compared to the typical baseline [1]. This enhanced filtration efficiency translates to a lower lifetime risk of chronic kidney disease [1]. The double dose of the G allele also leads to the lowest circulating levels of renal stress markers, such as N-acetylornithine, and lower blood urea nitrogen (BUN) levels [2]. This genetic profile offers robust, lifelong support for kidney health and detoxification.
Higher estimated glomerular filtration rate (eGFR); Lower risk of chronic kidney disease.
Variants with shared genetic architecture
rs62435145 · UNCX Gene · Chr 7 · Kidney Function
rs963837 · MPPED2 Gene · Chr 11 · Kidney Function and Health
rs1394125 · UBE2Q2 Gene · Chr 15 · Kidney Health and Gout Risk
New loci associated with kidney function and chronic kidney disease.
Content updated August 2026.
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