Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 이동진 | - |
dc.contributor.author | 문종석 | - |
dc.contributor.author | Song Dae Kwon | - |
dc.contributor.author | Lee Yong Seok | - |
dc.contributor.author | 김동섭 | - |
dc.contributor.author | 조남준 | - |
dc.contributor.author | 길효욱 | - |
dc.contributor.author | Lee Eun Young | - |
dc.contributor.author | 박삼엘 | - |
dc.date.accessioned | 2024-06-12T01:31:50Z | - |
dc.date.available | 2024-06-12T01:31:50Z | - |
dc.date.issued | 2024-05 | - |
dc.identifier.issn | 2211-9132 | - |
dc.identifier.issn | 2211-9140 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/26327 | - |
dc.description.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. | - |
dc.format.extent | 14 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | 대한신장학회 | - |
dc.title | Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants | - |
dc.title.alternative | Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.doi | 10.23876/j.krcp.23.079 | - |
dc.identifier.bibliographicCitation | Kidney Research and Clinical Practice, v.43, no.3, pp 299 - 312 | - |
dc.citation.title | Kidney Research and Clinical Practice | - |
dc.citation.volume | 43 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 299 | - |
dc.citation.endPage | 312 | - |
dc.identifier.kciid | ART003082127 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.subject.keywordAuthor | Chronic kidney disease | - |
dc.subject.keywordAuthor | Estimated glomerular filtration rate | - |
dc.subject.keywordAuthor | Genetics | - |
dc.subject.keywordAuthor | Genome-wide association study | - |
dc.subject.keywordAuthor | Korean Genome and Epidemiology | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
(31538) 22, Soonchunhyang-ro, Asan-si, Chungcheongnam-do, Republic of Korea+82-41-530-1114
COPYRIGHT 2021 by SOONCHUNHYANG UNIVERSITY ALL RIGHTS RESERVED.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.