What you carry at this position in your DNA and what research says about it.
Kidney Disease Risk: 10/10 evidence, 32 publications.
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Sample genotype (not yours): G/G
Higher Chronic Kidney Disease and Blood Pressure Risk
Two copies of the G allele are linked to elevated levels of uromodulin in the kidneys. This increases the risk of chronic kidney disease and high blood pressure, but offers protection against kidney stones.
What this genotype means: Elevated risk of chronic kidney disease; Higher systolic and diastolic blood pressure; Lower risk of kidney stones.
Sample genotype (not yours): A/A
Lower Chronic Kidney Disease Risk but Higher Stone Risk
Two copies of the A allele are linked to lower uromodulin levels, protecting against chronic kidney disease and high blood pressure. However, this increases the susceptibility to kidney stones.
What this genotype means: Lower risk of chronic kidney disease; Reduced blood pressure levels; Increased risk of kidney stones.
Sample genotype (not yours): G/A
Moderate Kidney Disease and Kidney Stone Risk
Carrying one G and one A allele results in intermediate uromodulin levels. This balances the risk of chronic kidney disease and high blood pressure with a moderate risk of kidney stones.
What this genotype means: Moderate risk of chronic kidney disease; Typical blood pressure levels; Moderate risk of kidney stones.
Gene function and biological role
Gene Function: The PDILT gene encodes a protein disulfide isomerase-like protein that is primarily active in testis tissue. Although PDILT itself is not expressed in the kidneys, genetic variations within its sequence act as powerful regulatory elements for the neighboring UMOD gene [1]. The UMOD gene produces uromodulin, which is the most abundant protein excreted in normal human urine [2]. Uromodulin plays a critical role in defending the urinary tract against bacterial infections and regulating salt transport in the loop of Henle [3]. Consequently, genetic changes in this region have a profound impact on chronic kidney health and blood pressure regulation [4].
Variant Impact: The rs77924615 variant is an intronic change located within the PDILT gene. This variant functions as an enhancer that directly modulates the transcription of the adjacent UMOD gene in kidney tissue [1]. The G allele of this variant is strongly associated with increased production and excretion of uromodulin [2]. Conversely, the A allele leads to lower levels of uromodulin in both the kidneys and urine [3]. This alteration in uromodulin levels creates a distinct trade-off between protection against infections and long-term kidney strain [4].
Key Insight: This variant represents an evolutionary trade-off where protection against urinary tract infections comes at the cost of higher blood pressure and chronic kidney disease risk.
Location: PDILT. Chromosome 16 · 16p12.3 · 20.4 Mb
Estimated prevalence by population
Global 71.0%; European 64.4%; African 88.5%; East Asian 70.6%; South Asian 60.3%; Americas 62.5%; Ashkenazi 73.1%; Finnish 62.8%; Middle Eastern 82.5%; Amish 54.8%.
Estimated GG genotype frequency.
Global 26.0%; European 31.7%; African 11.1%; East Asian 26.9%; South Asian 34.7%; Americas 33.1%; Ashkenazi 24.8%; Finnish 32.9%; Middle Eastern 16.7%; Amish 38.5%.
Estimated GA genotype frequency.
Global 3.0%; European 3.9%; African 0.3%; East Asian 2.6%; South Asian 5.0%; Americas 4.4%; Ashkenazi 2.1%; Finnish 4.3%; Middle Eastern 0.8%; Amish 6.8%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Kidney Function & Disease
Chronic Kidney Disease. Evidence: 10/10. Source: PMID 34594039. Increased Risk.
Kidney Stones. Evidence: 10/10. Source: PMID 40216741. Lower Risk.
Kidney Function. Evidence: 10/10. Source: PMID 31015462. Lower Rate.
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 10/10. Source: PMID 38689001. Higher Pressure.
Showing effects for A/A genotype
Chronic Kidney Disease. Evidence: 10/10. Source: PMID 34594039. Lower Risk.
Kidney Stones. Evidence: 10/10. Source: PMID 40216741. Increased Risk.
Kidney Function. Evidence: 10/10. Source: PMID 31015462. Higher Rate.
Blood Pressure. Evidence: 10/10. Source: PMID 38689001. Lower Pressure.
Showing effects for G/A genotype
Chronic Kidney Disease. Evidence: 10/10. Source: PMID 34594039. Typical Risk.
Kidney Stones. Evidence: 10/10. Source: PMID 40216741. Typical Risk.
Kidney Function. Evidence: 10/10. Source: PMID 31015462. Typical Rate.
Blood Pressure. Evidence: 10/10. Source: PMID 38689001. Typical Pressure.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Elevated levels of uromodulin protein in the urine and kidneys are highly characteristic of this genotype [1]. While uromodulin helps defend against urinary tract infections, its overproduction is linked to long-term renal strain [2]. Large-scale genomic studies show that this genotype increases the risk of developing chronic kidney disease, with an odds ratio of approximately 1.23 [3]. It is also associated with higher systolic and diastolic blood pressure, likely due to altered salt reabsorption in the kidneys [4]. On the positive side, the high uromodulin levels in this genotype help prevent the crystallization of minerals, resulting in a lower risk of kidney stones [5]. Additionally, individuals with this genotype tend to have higher levels of blood urea nitrogen and creatinine, which are markers of reduced filtration efficiency [6].
Elevated risk of chronic kidney disease; Higher systolic and diastolic blood pressure; Lower risk of kidney stones; Higher blood urea nitrogen and creatinine levels.
Sample genotype: AA (Homozygous)
Reduced levels of uromodulin expression in the kidneys are highly characteristic of this genotype [1]. This reduction in uromodulin is highly protective against chronic kidney disease and long-term renal decline [2]. Individuals with this genotype typically exhibit higher estimated glomerular filtration rates, indicating more efficient kidney function [3]. They also tend to have lower systolic and diastolic blood pressure, reducing cardiovascular strain [4]. However, the lower abundance of uromodulin in the urine reduces its ability to inhibit mineral crystallization [5]. As a result, this genotype is associated with an increased risk of developing kidney stones, with an odds ratio of approximately 1.13 [6]. It is also linked to a slightly higher susceptibility to urinary tract infections due to decreased pathogen clearance [7].
Lower risk of chronic kidney disease; Reduced blood pressure levels; Increased risk of kidney stones; Higher estimated glomerular filtration rate.
Sample genotype: GA (Heterozygous)
An intermediate level of uromodulin expression in the renal system is typical for this heterozygous genotype [1]. Individuals with this genotype produce moderate amounts of uromodulin, resulting in intermediate risks for several renal traits [2]. The risk of chronic kidney disease and elevated blood pressure is slightly higher than in those with the A/A genotype, but lower than in G/G individuals [3]. Conversely, the risk of developing kidney stones is moderately increased compared to G/G carriers, but remains lower than in A/A carriers [4]. This genotype demonstrates how a single genetic change can create a balanced physiological trade-off between acute protection and chronic wear [5]. Standard markers of kidney function, such as glomerular filtration rate and creatinine, typically fall within the normal range for this group [6].
Moderate risk of chronic kidney disease; Typical blood pressure levels; Moderate risk of kidney stones; Intermediate uromodulin levels.
Variants with shared genetic architecture
rs13333226 · UMOD Gene · Chr 16 · Hypertension and Kidney Health
rs4293393 · UMOD Gene · Chr 16 · Kidney Disease Risk
rs12509595 · FGF5 Gene · Chr 4 · Blood Pressure Risk
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
A cross-population atlas of genetic associations for 220 human phenotypes.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
Content updated August 2026.
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