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Abstract: FR-PO926

Discovery and Prioritization of Genetic Determinants of Kidney Function in Approximately 310,000 Individuals from ESKD-Prevalent Taiwan and Japan

Session Information

Category: CKD (Non-Dialysis)

  • 2301 CKD (Non-Dialysis): Epidemiology, Risk Factors, and Prevention


  • Kuo, Chin-Chi, Big Data Center, China Medical University Hospital, Taichung, Taiwan
  • Chen, Hung-Lin, Big Data Center, China Medical University Hospital, Taichung, Taiwan
  • Chang, David R., Division of Nephrology, Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan

Limited ancestral diversity in genome-wide association studies (GWASs) on kidney function confines their generalizability to regions with a high incidence of end-stage kidney disease (ESKD).


We conducted a meta-analysis of GWASs (n=244952) of estimated glomerular filtration rate (eGFR) and a replication dataset (n=27058) from Taiwan and Japan. Additionally, polygenic risk scores (PRSs) for chronic kidney disease (CKD) substantially differentiated the CKD risk in independent cohorts from Taiwan (n=30433) and the United Kingdom (n=260245). (Fig. 1)


Our analysis identified 238 independent signals in 97 loci that were associated with eGFR. Functional analyses revealed that variants associated with F12 expression and ABCG2 missense mutation link inflammation, coagulation, and urate metabolism to a high risk of decreased kidney function. The median time to 10% CKD incidence in PRSCKD risk groups (above, in-between, and below two standard deviations of mean) was 64, 66, and 71 years after birth, respectively. (Fig. 2) The 7-year difference between high– and low–genetic risk groups can be observed from the age of 50.


Our findings suggest that PRSCKD has the potential to be used for early kidney disease prevention, particularly in countries with a high incidence of ESKD.

Figure 1. Study design flowchart

Figure 2. Cumulative incidence of CKD based on PRS stratification


  • Government Support – Non-U.S.