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Novel Genetic Variants Associated with Chronic Kidney Disease Progression
Miyeun Han1, Sungji Moon2,3,4,5, Sangjun Lee2,3,6
1Department of Internal Medicine, National Medical Center, Seoul, Korea.
Journal of the American Society of Nephrology : JASN
|January 31, 2023
Summary
New genetic markers in TPPP and FAT1-LINC02374 loci predict chronic kidney disease (CKD) progression. These single nucleotide polymorphisms (SNPs) help identify patients at risk for declining estimated glomerular filtration rate (eGFR), aiding in early intervention strategies for CKD.
Area of Science:
- Genetics
- Nephrology
- Genomics
Background:
- Chronic kidney disease (CKD) incidence is influenced by genetic factors.
- Genetic markers for CKD progression remain incompletely understood.
- Estimated glomerular filtration rate (eGFR) slope is a key indicator of CKD progression.
Purpose of the Study:
- To identify genetic susceptibility loci associated with eGFR slope in CKD patients.
- To discover novel genetic markers for predicting CKD progression.
- To develop polygenic risk scores for eGFR decline.
Main Methods:
- Genome-wide association study (GWAS) in 1738 CKD patients.
- Replication study in 2498 CKD patients.
- Expression quantitative trait loci (eQTL) analysis, pathway enrichment, and transcription factor binding site disruption prediction.
- Development and evaluation of polygenic risk scores (PRS).
Main Results:
- Replicated single nucleotide polymorphisms (SNPs) in novel loci TPPP and FAT1-LINC02374.
- eQTL studies confirmed SNPs regulate kidney function-associated genes.
- SNPs are located near enhancer regions and predicted to disrupt transcription factor binding.
- Polygenic risk scores based on 22 SNPs significantly associated with CKD outcomes.
Conclusions:
- SNP markers in TPPP and FAT1-LINC02374 loci serve as predictive markers for eGFR decline in CKD patients.
- This study provides novel insights into the genetic basis of CKD progression.
- Identified genetic markers offer potential for early risk stratification and intervention in CKD.
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