Kidney Res Clin Pract.
2024 May;43(3):299-312. 10.23876/j.krcp.23.079.
Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants
- Affiliations
-
- 1Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Republic of Korea
- 2Department of Integrated Biomedical Science, Soonchunhyang Institute of Medi-bio Science (SIMS), Soonchunhyang University, Cheonan, Republic of Korea
- 3Department of Biology, College of Natural Sciences, Soonchunhyang University, Asan, Republic of Korea
- 4Support Center (Core-Facility) for Bio-Bigdata Analysis and Utilization of Biological Resources, Soonchunhyang University, Asan, Republic of Korea
- 5Institute of Tissue Regeneration, Soonchunhyang University College of Medicine, Cheonan, Republic of Korea
- KMID: 2557313
- DOI: http://doi.org/10.23876/j.krcp.23.079
Abstract
- Background
Chronic 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. Methods: We utilized clinical and genetic information collected from the Korean Genome and Epidemiology Study (KoGES). Results: More 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. Conclusion: In 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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- The Importance of Global Studies of the Genetics of Type 2 Diabetes
- Genome-Wide Association Study of Metabolic Syndrome in Koreans
- Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population
- A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going
- Analysis of differences in human leukocyte antigen between the two Wellcome Trust Case Control Consortium control datasets
