Good kidney function (eGFR)
- eGFR (estimated glomerular filtration rate) is a numerical indicator of the blood filtration capacity of the kidneys.The normal value is 90 or more, less than 60 indicates decreased renal function, and less than 15 indicates end-stage renal disease.
- C-type mutation in DNA region rs4774940A study at the University of Pennsylvania found that people with this condition tend to have lower eGFR values.
- The prevalence of type GG among Japanese people is72.4%This is approximately 1.5 times higher than the world average of 48.8%.
Overview Estimated glomerular filtration rate (eGFR) is a measure of how efficiently your kidneys are filtering blood. eGFR is used to understand the status of kidney function, detect early stages of kidney disease, and monitor the progress of kidney disease. Typically, eGFR is calculated from age, gender, weight, and serum creatinine levels determined by blood tests. Creatinine is a muscle metabolite that is excreted by the kidneys, so its concentration is an indicator of kidney function. eGFR values are expressed in milliliters per minute per 1.73 square meters (mL/min/1.73 m2). Normal kidney function has an eGFR of approximately 90 or higher, but an eGFR of less than 60 indicates decreased kidney function. Additionally, an eGFR of less than 30 indicates severe renal dysfunction, and an eGFR of less than 15 indicates a high possibility of end-stage renal disease. Thus, eGFR is an important indicator for evaluating renal function. If the eGFR value decreases, treatment and lifestyle changes are required to slow the progression of kidney disease. It is important to maintain kidney health and prevent progression of kidney failure through proper monitoring and treatment. Research by Hongbo Liu and colleagues at the University of Pennsylvania revealed that a DNA region called rs4774940 is associated with estimated glomerular filtration rate (eGFR) values. There are three genotypes in this DNA region: GG, GC, and CC, and it was found that people with the C genotype tend to have low eGFR values.
What is eGFR (estimated glomerular filtration rate)?
eGFR (estimated glomerular filtration rate) is a renal function evaluation index that quantifies the ability of the kidneys to filter blood.It is calculated from age, gender, weight, and serum creatinine level, and is used for early detection and monitoring of kidney disease progression.
eGFR reference value and renal function stage classification
The eGFR value is expressed in units of mL/min/1.73㎡, and the status of kidney function is classified as follows based on the value.
| eGFR value (mL/min/1.73㎡) | renal function stage | condition |
|---|---|---|
| 90 or more | G1 (normal) | Normal or high renal function |
| 60〜89 | G2 (mild decline) | Mild decline in renal function |
| 30〜59 | G3 (moderate decline) | Moderate decline in renal function |
| 15〜29 | G4 (altitude loss) | Severe decline in renal function |
| less than 15 | G5 (end stage renal disease) | Dialysis therapy required |
How to calculate eGFR
eGFR isSerum creatinine levelIt is calculated based on. Creatinine is a muscle metabolite that is excreted by the kidneys, so blood levels are an indicator of kidney function.
- Serum creatinine level:Basic markers of kidney function measured by blood tests
- Age/gender:Used to compensate for differences in muscle mass
- Physique:Calculated by standardizing to a body surface area of 1.73㎡
Lifestyle habits to prevent kidney function decline
The following lifestyle habits are recommended to maintain and improve eGFR values.
- Salt restriction:Aim for less than 6g of salt intake per day
- Moderate exercise:150 minutes or more of moderate aerobic exercise per week
- Water intake:Adequate hydration reduces the burden on the kidneys
- No smoking:Smoking constricts renal blood vessels and worsens kidney function.
- Regular check-up:Check eGFR value through health checkup at least once a year
Relationship between genes and eGFR values
What is the relationship between DNA region rs4774940 and eGFR?
Research by Hongbo Liu and colleagues at the University of Pennsylvania (2022, Nature (Published in Genetics) revealed that eGFR values are associated with the DNA region rs4774940.
- There are three genotypes of rs4774940: GG, GC, and CC.
- Genotype with type C mutation(CC type/GC type) people tend to have low eGFR values
- This gene region is related to the CGNL1 gene
Comparison of genotype distribution in Japanese and the world (rs4774940)
| Genotype | Percentage of Japanese people | percentage of the world |
|---|---|---|
| GG type | 72.4% | 48.8% |
| GC type | 25.3% | 42.1% |
| CC type | 2.2% | 9.0% |
The prevalence of type C mutation in Japanese people (CC+GC) is27.5%, which is lower than the global average of 51.1%. On the other hand, the percentage of Japanese people with type GG is72.4%This is approximately 1.5 times higher than the world average of 48.8%, reflecting the genetic characteristics of the Japanese population.
Relationship between DNA region rs1815739 and eGFR
Another gene region related to eGFRrs1815739has been reported. This genetic region is related to the ACTN3 gene.
Comparison of genotype distribution in Japanese and the world (rs1815739)
| Genotype | Percentage of Japanese people | percentage of the world |
|---|---|---|
| TT type | 23.5% | 18.5% |
| TC type | 49.9% | 49.0% |
| CC type | 26.4% | 32.3% |
Rationale for testing
Surface DNA region: Good kidney function (eGFR)
The gene region that most strongly influences kidney function (eGFR) is rs4774940. The distribution of isomorphic genotypes in Japan is as follows.
- GG
72.4 % - GC
25.3 % - CC
2.2 %
Another gene region related to good kidney function (eGFR) is rs1815739. The distribution of isomorphic genotypes in Japan is as follows
- TT
23.5 % - TC
49.9 % - CC
26.4 %
Basis for inspection
Hongbo at the University of Pennsylvania A study by Liu et al. revealed that genes are associated with evaluation of renal function (eGFR). There is a region called rs4774940 in the human genome, and there are two types of mutations, G and C, in the gene in this region. It was found that people with type G mutations tend to have low eGFR values.
The DNA region investigated this time
Schematic diagram of DNA map present in cells
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Related genes
| Related genes | CGNL1 |
|---|---|
| Related genes | ACTN3 |
Frequently asked questions (FAQ)
Q1. What is eGFR (estimated glomerular filtration rate)?
eGFR (estimated glomerular filtration rate) is a renal function evaluation index that quantifies the ability of the kidneys to filter blood.It is calculated from age, gender, and serum creatinine value, and the unit is mL/min/1.73㎡. The normal value is 90 or higher, less than 60 is considered to have decreased renal function, and less than 15 is considered end-stage renal disease. This test is essential for early detection of kidney disease and monitoring its progress.
Q2. Are eGFR values related to genes?
Yes.Research by Hongbo Liu and colleagues at the University of Pennsylvania (2022, Nature (Published in Genetics) found that the DNA region rs4774940 is associated with eGFR values.There are three genotypes of rs4774940: GG, GC, and CC, and people with the genotype C mutation tend to have low eGFR values.
Q3. What is the distribution of eGFR-related genotype (rs4774940) in Japanese people?
The genotype distribution of rs4774940 in Japanese people isGG type 72.4%, GC type 25.3%, CC type 2.2%It is. Worldwide, 48.8% are GG type, 42.1% are GC type, and 9.0% are CC type, and Japanese people have a characteristic that the proportion of GG type is about 1.5 times higher than the world average.
Q4. How can I improve my eGFR value?
How to maintain and improve eGFR valuesSalt restriction (less than 6g per day), moderate exercise (more than 150 minutes of aerobic exercise per week), sufficient water intake, and no smoking.is recommended. If your eGFR is less than 60, it is important to see a nephrologist and work on appropriate treatment and lifestyle changes.
References
- Reference link 1: 2022 Jul., Hongbo Liu, Nat Genet
- Reference link 2: 2021 Feb., Nasa Sinnott-Armstrong, Nat Genet