Loss-of-function variants in SLC47A1 play a causal role in the development of kidney disease. This is one of the results generated by an extensive metaanalysis of genome-wide association studies (GWAS) in which US scientists analyzed kidney function data of 1.5 mio individuals. Downstream investigations using a knockout mouse model supported the contribution of SLC47A1 in kidney function.

Combining various multi-omics approaches and statistical models, the researchers integrated genome, epigenome, methylome and transcriptome information and single-cell sequencing data to find genetic determinants of human kidney function and to provide new insights into the relevant role of epigenetic changes. They were able to identify 878 loci, including 126 new loci, that are signficantly associated with kidney function.

The results of the study have been published in Nature Genetics.