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Updated: Feb 21, 2026

Assessment of Vascular Function in Patients With Chronic Kidney Disease
Published on: June 16, 2014
Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A
Yoko Kubo1, Takahiro Imaizumi2, Masahiko Ando1
1Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan.
Insights
This study identifies specific genetic markers, BRAP rs3782886 and SPATA5L1 rs2467853, associated with chronic kidney disease (CKD) risk. A developed genetic risk score (GRS) also shows a significant link to CKD development.
Area of Science:
- Genetics
- Nephrology
- Cardiovascular Disease
Background:
- Single nucleotide polymorphisms (SNPs) are linked to chronic kidney disease (CKD) predisposition.
- The role of atherosclerosis-related SNPs in CKD incidence requires further investigation.
Purpose of the Study:
- To identify SNPs associated with CKD.
- To determine if accumulated risk alleles contribute to CKD development.
Main Methods:
- A cross-sectional study analyzed 4814 male workers, examining estimated glomerular filtration rate (eGFR) and 59 candidate polymorphisms.
- A genetic risk score (GRS) was calculated based on significant risk alleles.
- Multivariate logistic regression, ROC curve analysis, IDI, and cNRI were employed.
Main Results:
- Eight candidate SNPs showed association with eGFR (P < 0.05) after adjustment.
- BRAP rs3782886 and SPATA5L1 rs2467853 were significantly associated with eGFR (FDR < 0.05).
- The GRS was significantly associated with CKD (OR, 1.17; 95% CI, 1.09-1.26), improving IDI and cNRI.
Conclusions:
- Kidney function is associated with BRAP rs3782886 and SPATA5L1 rs2467853.
- The developed GRS for CKD demonstrated a significant association with CKD after clinical factor adjustment.
Background:
Several single nucleotide polymorphisms (SNPs) have been implicated in the predisposition to chronic kidney disease (CKD). Atherosclerotic disease is deeply involved in the incidence of CKD; however, whether SNPs related to arteriosclerosis are involved in CKD remains unclear. This study aimed to identify SNPs associated with CKD and to examine whether risk allele accumulation is associated with CKD.
Methods:
We conducted a cross-sectional study using data of 4814 male workers to examine the association between estimated glomerular filtration rate (eGFR) and 59 candidate polymorphisms (17 CKD, 42 atherosclerotic diseases). We defined the genetic risk score (GRS) as the total number of risk alleles that showed a significant association in this analysis and examined the relationship with CKD (eGFR < 60 ml/min/1.73m2). Multivariate logistic regression, discrimination by area under the receiver operating characteristic curve, integrated discrimination improvement (IDI), and category-free net reclassification improvement (cNRI) were evaluated.
Results:
In total, 432 participants were categorized as having CKD. We found eight candidate SNPs with P value < 0.05 (CX3CR1 rs3732379, SHROOM3 rs17319721, MTP rs1800591, PIP5K1B rs4744712, APOA5 rs662799, BRAP rs3782886, SPATA5L1 rs2467853, and MCP1 rs1024611) in the multivariate linear regression adjusted for age, body mass index, systolic blood pressure, and fasting blood glucose. Among these eight SNPs, BRAP rs3782886 and SPATA5L1 rs2467853 were significantly associated with eGFR (false discovery rate < 0.05). GRS was significantly associated with CKD (odds ratio, 1.17; 95% confidence interval, 1.09-1.26). C-statisics improved from 0.775 to 0.780 but showed no statistical significance. However, adding GRS significantly improved IDI and cNRI (0.0057, P = 0.0028, and 0.212, P < 0.001, respectively).
Conclusions:
After adjustment for clinical factors, kidney function was associated with BRAP rs3782886 and SPATA5L1 rs2467853 and the GRS for CKD that we developed was associated CKD.
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