Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants

Genetic architecture Genome-wide Association Study 1000 Genomes Project Genetic Association
DOI: 10.1126/science.adp4753 Publication Date: 2025-02-06T18:59:31Z
AUTHORS (298)
ABSTRACT
Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted multiancestry genome-wide association study in 2.2 million individuals and identified 1026 (97 previously unknown) independent loci. Ancestry-specific analysis indicated an attenuation newly signals on common variants European ancestry populations the power population diversity for further discoveries. We defined genotype effects allele-specific gene expression regulatory circuitries more than 700 human kidneys 237,000 cells. found 1363 coding disrupting 782 genes, with 601 genes also targeted by convergence 161 genes. Integrating 32 types information, present “Kidney Disease Genetic Scorecard” prioritizing potentially causal cell types, druggable targets kidney disease.
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