Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variantsopen accessGenome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants
- Other Titles
- Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants
- Authors
- 이동진; 문종석; Song Dae Kwon; Lee Yong Seok; 김동섭; 조남준; 길효욱; Lee Eun Young; 박삼엘
- Issue Date
- May-2024
- Publisher
- 대한신장학회
- Keywords
- Chronic kidney disease; Estimated glomerular filtration rate; Genetics; Genome-wide association study; Korean Genome and Epidemiology
- Citation
- Kidney Research and Clinical Practice, v.43, no.3, pp 299 - 312
- Pages
- 14
- Journal Title
- Kidney Research and Clinical Practice
- Volume
- 43
- Number
- 3
- Start Page
- 299
- End Page
- 312
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/26327
- DOI
- 10.23876/j.krcp.23.079
- ISSN
- 2211-9132
2211-9140
- 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.
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Collections - College of Natural Sciences > Department of Biology > 1. Journal Articles
- College of Medicine > Department of Internal Medicine > 1. Journal Articles
- College of Medicine > Department of Pathology > 1. Journal Articles
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