Fig. 2: Supporting alternative biomarker association for 348 loci.
From: Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals
Shown are results from our evaluation of alternative kidney function biomarker association for the 424 locus lead variants to establish loci with likely kidney function relevance. We classified each of the 424 variants as “validated” by BUN and/or eGFRcys based on a nominal significant association (P < 0.05) with consistent effect direction for BUN (n = 852,678, i.e. opposite effect to eGFRcrea) and/or eGFRcys (n = 460,826, i.e. same effect direction as eGFRcrea). We validated 348 of the 424 loci and thus more than doubled the number of loci with additional biomarker evidence compared to previous work (147 loci previously based on BUN-only7). a Pie chart showing the classification of the 424 lead variants as “validated” by eGFRcys and/or BUN effects. b Scatterplot comparing effect sizes for eGFRcrea and eGFRcys with 95% confidence intervals (green: eGFRcys and BUN validated, brown: only eGFRcys-validated, magenta: only BUN validated, grey: not validated). c Scatterplot comparing effect sizes for eGFRcrea and BUN (colouring analogous to b). The correlation coefficients between effect sizes shown are Spearman correlation coefficients and were based on the 348 validated loci lead variants. Genetic effect sizes are presented with error bars +/− 1.96* standard error of the genetic effect size estimate.
