{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lin MR"],"funding":["Ministry of Education","National Science and Technology Council","Taipei Medical University"],"pagination":["72"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12330128"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["32(1)"],"pubmed_abstract":["<h4>Background</h4>Taiwan has the highest prevalence of chronic kidney disease (CKD) and end-stage kidney disease (ESKD) globally, making them major public health concerns with significant morbidity, mortality, and healthcare burden. While genetic risk factors for kidney disease have been identified in previous studies, the contribution of rare genetic variants remains unclear.<h4>Methods</h4>This study utilized whole-exome sequencing (WES) to investigate the role of missense rare variants in CKD and ESKD susceptibility. Genomic data from 500 Taiwanese individuals at Taipei Medical University Hospital were included based on strict clinical diagnostic criteria, comprising 200 CKD cases, 200 ESKD cases, and 100 healthy controls. Independent validation was performed using ESKD Asian cohorts f"],"journal":["Journal of biomedical science"],"pubmed_title":["Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts."],"pmcid":["PMC12330128"],"funding_grant_id":["NSTC112-2320-B-038-026-MY3","NSTC113-2314-B-038-122-MY3","TMU112-AE1-B32","DP2-TMU-113-R03","NSTC113-2321-B-038-008-MY3"],"pubmed_authors":["Kinoshita K","Lin YF","Wu MS","Shido K","Kojima K","Chou WH","Hung KY","Chang WC","Lin MR","Wu IW"],"additional_accession":[]},"is_claimable":false,"name":"Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts.","description":"<h4>Background</h4>Taiwan has the highest prevalence of chronic kidney disease (CKD) and end-stage kidney disease (ESKD) globally, making them major public health concerns with significant morbidity, mortality, and healthcare burden. While genetic risk factors for kidney disease have been identified in previous studies, the contribution of rare genetic variants remains unclear.<h4>Methods</h4>This study utilized whole-exome sequencing (WES) to investigate the role of missense rare variants in CKD and ESKD susceptibility. Genomic data from 500 Taiwanese individuals at Taipei Medical University Hospital were included based on strict clinical diagnostic criteria, comprising 200 CKD cases, 200 ESKD cases, and 100 healthy controls. Independent validation was performed using ESKD Asian cohorts f","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-04-18T03:15:09.323Z","creation":"2026-04-18T03:08:01.126Z"},"accession":"S-EPMC12330128","cross_references":{"pubmed":["40770708"],"doi":["10.1186/s12929-025-01168-0"]}}