Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose…

• NI
  National Institutes of Health

  Awards: R24OD017870, R01DK090311
• MR
  Medical Research Council

  Awards: MR/K013351/1, MR/K006584/1, MC_PC_13048, MR/L003120/1, MR/N003284/1, MC_UU_12015/1
• EA
  Economic and Social Research Council

  Award: ES/F02679X/1