ArticleKidney research and clinical practice2024
Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.
Article in Kidney research and clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Rare variant optimized GWAS with functional validation identifies causal architecture of kidney function in East Asian population.Scientific reports · 2026Article
- African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels.Genome medicine · 2026Article
- Toward precision nephrology: identification of cause-specific chronic kidney disease biomarkers through multiomics integration in Korean cohorts.Kidney research and clinical practice · 2026Article
- Polygenic Risk Scores Predicting Estimated GFR Validated With Iohexol Clearance.Kidney international reports · 2026Article
- Unveiling the genetic architecture of kidney function in the Korean population.Kidney research and clinical practice · 2024Article
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Abstract
backgroundChronic kidney disease is a significant health burden worldwide, with increasing incidence. Although several genome- wide association studies (GWAS) have investigated single nucleotide polymorphisms (SNP) associated with kidney trait, most studies were focused on European ancestry.
methodsWe utilized clinical and genetic information collected from the Korean Genome and Epidemiology Study (KoGES).
resultsMore than five million SNPs from 58,406 participants were analyzed. After meta-GWAS, 1,360 loci associated with estimated glomerular filtration rate (eGFR) at a genome-wide significant level (p = 5 × 10-8) were identified. Among them, 399 loci were validated with at least one other biomarker (blood urea nitrogen [BUN] or eGFRcysC) and 149 loci were validated using both markers. Among them, 18 SNPs (nine known ones and nine novel ones) with 20 putative genes were found. The aggregated effect of genes estimated by MAGMA gene analysis showed that these significant genes were enriched in kidney-associated pathways, with the kidney and liver being the most enriched tissues.
conclusionIn this study, we conducted GWAS for more than 50,000 Korean individuals and identified several variants associated with kidney traits, including eGFR, BUN, and eGFRcysC. We also investigated functions of relevant genes using computational methods to define putative causal variants.
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