Discovery and integrated functional genomics of cell-type and compartment-specific kidney disease genes

P16

Project Summary

Genome-wide studies of kidney function have studied global filtration markers, which integrate effects of different cell types. Most kidney disease risk genes however are important in specific cell types. P16 will therefore perform genetic studies of kidney cell type-specific protein and metabolite biomarkers in large human populations (N = 5,000-500,000), in order to detect new and to characterize known kidney disease risk loci. Implicated genes will be investigated using human kidney cell type-specific chromatin architecture and transcriptome data, and studied for causal associations with kidney disease via tissue-specific transcriptome-based Mendelian Randomization.