Sun-Wha Im

Abstract Chronic kidney disease is a growing burden, yet the genetic architecture of kidney function requires further investigation. We performed a genome-wide association study of estimated glomerular filtration rate in 72,298 Korean individuals using a population-specific Korean Biobank Array and genetic imputation with a population matching imputation panel enabling high-resolution variant detection. We identified 30 independent signals including an East Asian-specific rare variant rs535291258.

Loading metrics Open Access Peer-reviewed Research Article Sun-Wha Im, Jeesoo Chae, Ho-Young Son, Belong Cho, Jong-Il Kim , Jin-Ho Park Sun-Wha Im, Jeesoo Chae, Ho-Young Son, Belong Cho, Jong-Il Kim, Jin-Ho Park Published: April 9, 2020 https://doi.org/10.1371/journal.pone.0231336 Figures Abstract Prolonged hyperuricemia is a cause of gout and an independent risk factor for chronic health conditions including diabetes and chronic kidney diseases.

In this two-stage GWAS for DTC, we confirmed the associations of the signals at NRG1, NKX2-1, FOXE1 and DIRC3. Moreover, novel DTC susceptibility loci on VAV3, PCNXL2, FHIT, SEPT11, MSRB3 and INSR were identified. A variant (rs2439302) on NRG1 was reported be associated with thyroid-stimulating hormone level and DTC in previous GWASs10,20. Subsequently, several replication studies validated the association between rs2439302 and thyroid cancer (Supplementary Table 1)15,17,21.