What you carry at this position in your DNA and what research says about it.
Kidney and Lipid Health: 10/10 evidence, 21 publications.
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Sample genotype (not yours): T/T
Higher Risk of Kidney Decline and Lower HDL
Slower kidney filtration and less favorable cholesterol profiles are associated with this common genetic pattern. It is also linked to slightly higher average blood sugar levels over time.
What this genotype means: Lower kidney filtration rate; Lower HDL cholesterol levels; Slightly higher HbA1c levels.
Sample genotype (not yours): G/G
Optimal Kidney Function and Higher HDL Cholesterol
Efficient kidney filtration and healthier blood lipid levels are characteristic of this genetic profile. It also supports optimal blood sugar control, though a slight increase in prostate cancer risk has been observed.
What this genotype means: Higher kidney filtration rate; Higher HDL cholesterol levels; Slightly lower HbA1c levels.
Sample genotype (not yours): T/G
Typical Kidney Function and Lipid Levels
An intermediate metabolic profile is typical for individuals with one copy of each allele. Kidney filtration rates and cholesterol levels generally fall within the standard average range.
What this genotype means: Standard kidney filtration rate; Average HDL cholesterol levels; Typical HbA1c levels.
Gene function and biological role
Gene Function: The CERS2 gene encodes ceramide synthase 2, an essential enzyme responsible for synthesizing very-long-chain ceramides [1]. These specialized sphingolipids are critical structural components of cellular membranes, particularly in the kidney and liver [1]. CERS2 plays a vital role in maintaining mitochondrial membrane integrity and supporting cellular energy production [2]. Variations in this gene can alter enzyme activity, directly impacting lipid signaling and metabolic homeostasis [2]. Consequently, CERS2 is a key player in regulating both renal filtration efficiency and systemic lipid profiles [3].
Variant Impact: The rs267738 variant is a missense mutation in the CERS2 gene that results in a glutamate-to-alanine substitution at position 115 of the protein [2]. This amino acid change alters the enzyme's structure, leading to a partial loss of function in synthesizing very-long-chain ceramides [2]. The functional shift influences mitochondrial respiration and cellular metabolism, particularly in the liver and kidneys [2]. Consequently, the variant is strongly associated with key metabolic biomarkers, including estimated glomerular filtration rate and serum creatinine [1]. It also impacts circulating lipid levels, such as HDL cholesterol and apolipoprotein A1 [3].
Key Insight: This variant acts as a metabolic dial, where the less common G allele enhances kidney filtration efficiency and raises protective HDL cholesterol, but slightly increases the risk of prostate cancer.
Location: CERS2. Chromosome 1 · 1q21.3 · 151.0 Mb
Estimated prevalence by population
Global 74.2%; European 62.7%; African 92.1%; East Asian 94.7%; South Asian 86.8%; Americas 76.6%; Ashkenazi 64.3%; Finnish 64.3%; Middle Eastern 76.4%; Amish 51.0%.
Estimated TT genotype frequency.
Global 23.1%; European 33.0%; African 7.7%; East Asian 5.2%; South Asian 12.7%; Americas 21.8%; Ashkenazi 31.7%; Finnish 31.8%; Middle Eastern 22.0%; Amish 40.9%.
Estimated TG genotype frequency.
Global 2.6%; European 4.3%; African 0.2%; East Asian 0.1%; South Asian 0.5%; Americas 1.6%; Ashkenazi 3.9%; Finnish 3.9%; Middle Eastern 1.6%; Amish 8.2%.
Estimated GG genotype frequency.
Showing effects for T/T genotype
Organ Systems
Kidney Function & Disease
Kidney Function. Evidence: 10/10. Source: PMID 34272381. Lower eGFR.
Cardiovascular & Metabolic
Lipids & Cholesterol
HDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Lower HDL.
Diabetes & Glycemic Traits
Blood Sugar Control. Evidence: 8/10. Source: PMID 28898252. Higher HbA1c.
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 39024449. Lower Risk.
Showing effects for G/G genotype
Kidney Function. Evidence: 10/10. Source: PMID 34272381. Higher eGFR.
HDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Higher HDL.
Blood Sugar Control. Evidence: 8/10. Source: PMID 28898252. Lower HbA1c.
Prostate Cancer. Evidence: 10/10. Source: PMID 39024449. Higher Risk.
Showing effects for T/G genotype
Kidney Function. Evidence: 10/10. Source: PMID 34272381. Typical eGFR.
HDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Typical HDL.
Blood Sugar Control. Evidence: 8/10. Source: PMID 28898252. Typical HbA1c.
Prostate Cancer. Evidence: 10/10. Source: PMID 39024449. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele encodes the reference glutamate residue in the ceramide synthase 2 enzyme. This common genetic profile is associated with a lower estimated glomerular filtration rate, suggesting less efficient kidney clearance [1]. It also correlates with higher serum creatinine levels, which can be an early indicator of kidney strain [1]. Over time, this pattern is linked to a faster rate of kidney function decline, particularly in those with pre-existing metabolic challenges [2]. Lipid profiles also tend to be less optimal, characterized by lower levels of protective HDL cholesterol and apolipoprotein A1 [3]. Additionally, studies have observed slightly higher HbA1c levels, indicating a tendency toward higher average blood sugar [4]. Conversely, this profile is associated with a lower risk of developing prostate cancer [5]. Maintaining a kidney-friendly lifestyle and monitoring cardiovascular markers can help mitigate these genetic tendencies.
Lower kidney filtration rate; Lower HDL cholesterol levels; Slightly higher HbA1c levels.
Sample genotype: GG (Homozygous)
A pair of G alleles at this locus encodes the alanine variant of the ceramide synthase 2 enzyme, which alters cellular sphingolipid metabolism [1]. Large-scale genomic studies show that this variation is strongly linked to a higher estimated glomerular filtration rate, indicating more efficient kidney function [2]. It also correlates with lower levels of serum creatinine, a key marker of kidney stress [2]. On the lipid front, this profile is associated with significantly higher levels of HDL cholesterol and apolipoprotein A1, which are beneficial for cardiovascular health [3]. Furthermore, research indicates a lower average HbA1c, reflecting better long-term blood sugar regulation [4]. However, a slight increase in prostate cancer risk has been noted in some cohorts [5]. Overall, these metabolic advantages contribute to robust kidney and cardiovascular profiles.
Higher kidney filtration rate; Higher HDL cholesterol levels; Slightly lower HbA1c levels.
Sample genotype: TG (Heterozygous)
Possessing one T allele and one G allele results in a balanced mix of the reference glutamate and variant alanine forms of the ceramide synthase 2 enzyme. This heterozygous profile generally leads to typical kidney filtration rates, as measured by estimated glomerular filtration rate and creatinine levels [1]. Lipid markers, including HDL cholesterol and apolipoprotein A1, also tend to align with population averages [2]. Similarly, long-term blood sugar regulation, reflected by HbA1c levels, is typically standard [3]. The risk of developing prostate cancer is intermediate, sitting between the higher risk of the G/G genotype and the lower risk of the T/T genotype [4]. Because this profile represents a balanced genetic baseline, it does not strongly predispose to either metabolic advantages or significant risks. Standard health maintenance and routine wellness checks are usually sufficient to support long-term kidney and cardiovascular health.
Standard kidney filtration rate; Average HDL cholesterol levels; Typical HbA1c levels.
Variants with shared genetic architecture
rs1047891 · CPS1 Gene · Chr 2 · Urea Cycle and Kidney Health
rs17326656 · LHCGR Gene · Chr 2 · Abdominal Fat and Lipids
rs2229738 · CPT1A Gene · Chr 11 · Blood Lipid Levels
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
The power of genetic diversity in genome-wide association studies of lipids.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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